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Répertoire des tests génétiques

Le présent répertoire contient la liste des tests génétiques de diagnostic disponibles en Ontario pour les maladies rares et héréditaires, y compris les tests génétiques moléculaires, la cytogénétique constitutionnelle et les tests pharmacogénétiques.

Ce répertoire ne comprend pas :

Veuillez communiquer avec votre laboratoire de génétique local pour confirmer la disponibilité des tests, l’admissibilité des patients ou les exigences en matière d’échantillons.

Consultez les Conseils en génétique pour obtenir des conseils cliniques fondés sur des données probantes concernant les tests génétiques en Ontario, et le Répertoire des cliniques de génétique en Ontario pour obtenir une liste des cliniques de génétique en Ontario.

Les renseignements contenus dans ce répertoire sont fournis à titre informatif seulement et peuvent ne pas refléter toutes les mises à jour récentes.

Certaines de ces informations n’apparaissent qu’en anglais suite à leur exemption de la traduction en vertu de la Loi sur les services en français.

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          Neurodevelopmental
          Skeletal\Growth
          Neurogenetics
          Immunity
          Metabolic
          Cardiogenetics
          Mitochondrial
          Respiratory
          Hematology
          Renal
          Chromosomal Anomalies
          Fertility\Reproductive
          Connective Tissue
          Cancer
          Multipurpose
          Endocrinology
          Limited Access
          Pharmacogenetics
          Audiology
          Ophthalmology
          Multiple Congenital Anomalies
          Genome-wide

          Lab/Location

          London Health Sciences Centre
          The Hospital for Sick Children
          National Inherited Bleeding Disorder Genotyping Laboratory, KGH
          Dynacare
          St. Michael’s Hospital
          Sunnybrook Health Sciences Centre
          North York General Hospital
          Kingston General Hospital
          Mount Sinai Hospital
          Children's Hospital of Eastern Ontario
          Newborn Screening Ontario
          Trillium Health Partners - Credit Valley Hospital
          Hamilton Health Sciences Centre
          University Health Network

          Test type

          Gene Panel
          Single Gene
          Other
          Cytogenetic
          Targeted Variant
          Genome-wide
          Affichage 10 de 644 résultats

          22q11.2 Deletion Syndrome
          Catégorie :
          Neurodevelopmental
          Sub Category:
          22q11.21 Deletion Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          22q11.2 Deletion Syndrome
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies), Sedlackova syndrome, Shprintzen Syndrome
          Rechercher:
          22q11.2

          Achondroplasia / Hypochondroplasia
          Catégorie :
          Skeletal\Growth
          Sub Category:
          Achondroplasia and Hypochondroplasia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Achondroplasia / Hypochondroplasia
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Skeletal dysplasia, Achondroplasia, Hypochondroplasia

          Rechercher:

          FGFR1, FGFR2, FGFR3, TWIST1

          Actionable Gene Epilepsy Panel
          Catégorie :
          Neurogenetics
          Sub Category:
          Actionable Epilepsy
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Actionable Gene Epilepsy Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Epilepsy

          Rechercher:

          ALDH7A1, AMT, ATP7A, CAD, FOLR1, GAMT, GLDC, KCNQ2, KCNT1, MOCS1, PHGDH, PLPBP, PNPO, POLG, PSAT1, PSPH, SCN1A, SLC19A3, SLC2A1, SLC6A8, SUOX, TPP1, TRPM3, TSC1, TSC2

          Adenosine deaminase deficiency
          Catégorie :
          Immunity, Metabolic
          Sub Category:
          Adenosine Deaminase Deficiency (ADA)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Adenosine deaminase deficiency
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Adenosine deaminase deficiency

          Rechercher:

          ADA

          Adult Cardiomyopathy and Arrythmia Panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Cardiomyopathy and Arrhythmia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Adult Cardiomyopathy and Arrythmia Panel
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Cardiomyopathy and Arrhythmia

          Rechercher:

          ABCC9, ACADVL, ACTC1, ACTN2, ALPK3, BAG3, BRAF, CACNA1C, CALM1, CALM2, CALM3, CASQ2, CAV3, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HCN4, HRAS, JPH2, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPA2, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS2, RYR2, SCN5A, SHOC2, SLC22A5, SLC4A3, SOS1, SOS2, TAFAZZIN, TBX5, TECRL, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, VCL

          Adult Cardiomyopathy and Arrythmia Panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Cardiomyopathy and Arrhythmia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Adult Cardiomyopathy and Arrythmia Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:

          Cardiomyopathy and Arrhythmia

          Rechercher:

          ABCC9, ACADVL, ACTC1, ACTN2, ALPK3, BAG3, BRAF, CACNA1C, CALM1, CALM2, CALM3, CASQ2, CAV3, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HCN4, HRAS, JPH2, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPA2, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS2, RYR2, SCN5A, SHOC2, SLC22A5, SLC4A3, SOS1, SOS2, TAFAZZIN, TBX5, TECRL, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, VCL

          Adult Cardiomyopathy panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Cardiomyopathy
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Adult Cardiomyopathy panel
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Cardiomyopathy

          Rechercher:

          ABCC9, ACADVL, ACTC1, ACTN2, ALPK3, BAG3, BRAF, CACNA1C, CAV3, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HCN4, HRAS, JPH2, JUP, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS2, RYR2, SCN5A, SHOC2, SOS1, SOS2, TAFAZZIN, TBX5, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM63, TTN, TTR, VCL

          Adult Cardiomyopathy Panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Cardiomyopathy
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Adult Cardiomyopathy Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:

          Cardiomyopathy

          Rechercher:

          ABCC9, ACADVL, ACTC1, ACTN2, ALPK3, BAG3, BRAF, CACNA1C, CAV3, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HCN4, HRAS, JPH2, JUP, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS2, RYR2, SCN5A, SHOC2, SOS1, SOS2, TAFAZZIN, TBX5, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM63, TTN, TTR, VCL

          Adult Hypertrophic Cardiomyopathy Panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Hypertrophic Cardiomyopathy
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Adult Hypertrophic Cardiomyopathy Panel
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Hypertrophic Cardiomyopathy

          Rechercher:

          ABCC9, ACTC1, ACTN2, ALPK3, BRAF, CACNA1C, CSRP3, DES, FHL1, FHOD3, FLNC, GLA, HRAS, JPH2, KLHL24, KRAS, LAMP2, LZTR1, MAP2K1, MAP2K2, MRAS, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NRAS, PLN, PPP1CB, PRKAG2, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS2, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTR, VCL

          Adult Hypertrophic Cardiomyopathy Panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Hypertrophic Cardiomyopathy
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Adult Hypertrophic Cardiomyopathy Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:

          Hypertrophic Cardiomyopathy

          Rechercher:

          ABCC9, ACTC1, ACTN2, ALPK3, BRAF, CACNA1C, CSRP3, DES, FHL1, FHOD3, FLNC, GLA, HRAS, JPH2, KLHL24, KRAS, LAMP2, LZTR1, MAP2K1, MAP2K2, MRAS, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NRAS, PLN, PPP1CB, PRKAG2, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS2, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTR, VCL

          Adult Mitochondrial Disease Nuclear Gene Panel
          Catégorie :
          Mitochondrial
          Sub Category:
          Mitochondrial nuclear gene
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Adult Mitochondrial Disease Nuclear Gene Panel
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:
          Kearns-Sayre Syndrome, Leber's Hereditary Optic Neuropathy (LHON), MELAS, myoclonic epilepsy with ragged red fibers (MERRF), neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP), Pearson marrow pancreas syndrome, Progressive external ophthalmoplegia (PEO), Hepatocerebral mtDNA depletion syndrome (Deoxyguansine kinase deficiency (DGUOK)), Myopathic mtDNA depletion syndrome (Thymidine kinase deficiency (TK2)), SANDO syndrome, ALPERS syndrome, SCAE syndrome, familial PEO
          Rechercher:
          AARS2, ABCB7, ACADVL, ADCK3, APTX, BCS1L, BOLA3, C10orf2, CLPP, COQ2, COQ4, COQ9, COX10, CPT2, DARS2, DGUOK, DNA2, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FXN, GFER, GFM1, GLRX1 (GLRX2), GLRX5, HADHA, HARS2, HSD17B1, HSPD1, IARS, IARS2, ISCU, LARS2, MARS2, MFN2, MPV17, MRPS16, MRPS22, NFU1, OPA1, PDHA1, PDSS1, PDSS2, POLG, POLG2, PUS1, RARS2, RMRP, RRM2B, SACS, SARS2, SDHA, SDHAF1, SDHB, SDHD, SETX, SLC25A4, SPG7, SUCLA2, SUCLG1, TAZ, TIMM8A, TK2, TSFM, TUFM, TWNK, TYMP, YARS2

          Aicardi-Goutieres syndrome
          Catégorie :
          Immunity
          Sub Category:
          Primary immune deficiencies
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Aicardi-Goutieres syndrome
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Aicardi-Goutieres syndrome
          Rechercher:
          ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1

          Alpha-1-Antitrypsin Deficiency
          Catégorie :
          Respiratory
          Sub Category:
          Alpha-1-Antitrypsin Deficiency
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Alpha-1-Antitrypsin Deficiency
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Alpha-1-Antitrypsin Deficiency, AAT Deficiency, A1AT Deficiency, AATD, Alpha-1 Antiprotease Deficiency
          Rechercher:
          SERPINA1

          Alpha Thalassemia
          Catégorie :
          Hematology
          Sub Category:
          Alpha Thalassemia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Alpha Thalassemia
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:

          Alpha Thalassemia, Alpha thalassemia silent carrier, Alpha thalassemia minor (trait), Hemoglobin H (HbH) disease, Hemoglobin H-Constant Spring, Hb Bart's hydrops fetalis

          Rechercher:

          HBA1, HBA2, HBZ

          Amyloidosis
          Catégorie :
          Renal
          Sub Category:
          Amyloidosis
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Amyloidosis
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Amyloidosis, Familial Amyloid Polyneuropathy, Familial Transthyretin Amyloidosis, Hereditary ATTR Amyloidosis
          Rechercher:
          TTR

          Amyloidosis
          Catégorie :
          Renal
          Sub Category:
          Amyloidosis
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Amyloidosis
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Amyloidosis, Familial Amyloid Polyneuropathy, Familial Transthyretin Amyloidosis, Hereditary ATTR Amyloidosis

          Rechercher:

          TTR

          Amyloidosis panel
          Catégorie :
          Renal
          Sub Category:
          Amyloidosis
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Amyloidosis panel
          Rechercher:
          University Health Network
          Rechercher:
          Amyloidosis, Familial Amyloid Polyneuropathy, Familial Transthyretin Amyloidosis, Hereditary ATTR Amyloidosis
          Rechercher:
          APOA1, APOA2, B2M, FGA, GSN, LYZ, TTR

          Aneuploidy Testing - Fetal Demise
          Catégorie :
          Chromosomal Anomalies, Fertility\Reproductive
          Sub Category:
          Aneuploidy Studies- Perinatal
          Lab:
          Test type:
          Autre
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Aneuploidy Testing - Fetal Demise
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:

          Trisomy (13, 15, 16, 18,21, 22) and Sex Determination (X,Y), Rapid Aneuploidy Determination (RAD)

          Rechercher:

          AMEL, D13S305, D13S325, D13S628, D13S634, D15S1515, D15S659, D15S822, D16S2621, D16S2624, D16S539, D16S753, D18S1002, D18S386, D18S535, D18S819, D21S11, D21S1411, D21S1437, D21S1442, D22S683, D22S685, D22S686, D22S689, Extra Reflex Markers: D13S252, D13S800, FES, FPS, SRY, TAF9L

          Aneuploidy Testing - Post Natal
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          Aneuploidy Studies
          Lab:
          Test type:
          Autre
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Aneuploidy Testing - Post Natal
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:

          Trisomy (13, 18, 21) and Sex Determination (X,Y), Rapid Aneuploidy Determination (RAD)

          Rechercher:

          AMEL, D13S252, D13S305, D13S628, D13S634, D13S800, D18S386, D18S390, D18S535, D18S819, D18S978, D21S11, D21S1409, D21S1435, D21S1437, D21S1442, D21S1446, DXS1187, DXS6803, Extra Reflex Markers: D13S325, D13S762, D13S797, D18S391, D18S1002, D18S847, D18S977, D21S1411, DXS6807, DXS6809, DXS7423, DXS981, DXYS218, DXYS267, DYS448, HPRT, SRY, TAF9L

          Angelman Syndrome
          Catégorie :
          Neurodevelopmental
          Sub Category:
          Angelman/Prader Willi Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Angelman Syndrome
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Angelman Syndrome (AS)

          Rechercher:

          15q11-13

          Angelman Syndrome
          Catégorie :
          Neurodevelopmental
          Sub Category:
          Angelman Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Angelman Syndrome
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Angelman Syndrome (AS)
          Rechercher:
          SNRPN, UBE3A

          Angelman Syndrome - UPD
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          Uniparental Disomy: Angelman Syndrome/Prader Willi Syndrome
          Lab:
          Test type:
          Cytogenetic, Autre
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Angelman Syndrome - UPD
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          UPD15, Angelman Syndrome

          Rechercher:

          Chromosome 15

          Arginase Deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Arginase Deficiency
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Arginase Deficiency
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Arginase Deficiency, ARG1 Deficiency, Arginase-1 Deficiency, Hyperargininemia

          Rechercher:

          ARG1

          Arrhythmia Panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Arrhythmia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Arrhythmia Panel
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Arrhythmia
          Rechercher:
          CACNA1C, CALM1, CALM2, CALM3, CASQ2, CTNNA3, DES, DSC2, DSG2, DSP, EMD, FLNC, GLA, HCN4, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LAMP2, LMNA, NKX2-5, PKP2, PLN, PPA2, PRKAG2, RBM20, RYR2, SCN5A, SLC22A5, SLC4A3, TBX5, TECRL, TMEM43, TNNI3K, TRDN, TRPM4, TTN, TTR

          Arrhythmia Panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Arrhythmia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Arrhythmia Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Arrhythmia
          Rechercher:
          CACNA1C, CALM1, CALM2, CALM3, CASQ2, CTNNA3, DES, DSC2, DSG2, DSP, EMD, FLNC, GLA, HCN4, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LAMP2, LMNA, NKX2-5, PKP2, PLN, PPA2, PRKAG2, RBM20, RYR2, SCN5A, SLC22A5, SLC4A3, TBX5, TECRL, TMEM43, TNNI3K, TRDN, TRPM4, TTN, TTR

          Arterial Tortuosity Syndrome
          Catégorie :
          Cardiogenetics, Connective Tissue
          Sub Category:
          Arterial Tortuosity Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Arterial Tortuosity Syndrome
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Arterial Tortuosity Syndrome (ATS)
          Rechercher:
          SLC2A10

          Ashkenazi Jewish panel
          Catégorie :
          Fertility\Reproductive
          Sub Category:
          Ashkenazi Jewish Screening panel
          Lab:
          Test type:
          Targeted Variant, Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Ashkenazi Jewish panel
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Ashkenazi Jewish Panel, Bloom syndrome, Canavan disease, Familial Dysautonomia, Fanconi Anemia Group C, Mucolipidosis IV, Niemann-Pick disease,Tay-Sachs disease

          Rechercher:

          ASPA, BLM, FANCC, HEXA, IKBKAP, MCOLN1, SMPD1

          Ashkenazi Jewish Panel
          Catégorie :
          Cancer
          Sub Category:
          Ashkenazi Jewish Panel
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Ashkenazi Jewish Panel
          Rechercher:
          Mount Sinai Hospital
          Rechercher:

          Ashkenazi Jewish Panel

          Rechercher:

          APC c.3920T>A p.Ile1307Lys, BRCA1 c.5266dupC p.Gln1756Profs, BRCA1 c.68_69del p.Glu23fs, BRCA2 c.5946del p.Ser1982fs, CHEK2 c.1283C>T p.Ser428Phe, GREM1 40 kb dup, MSH2 c.1906G>C p.Ala636Pro, MSH6 c.3959_3962delCAAG p.Ala1320Glufs, MSH6 c.3984_3987dupGTCA p.Leu1330Valfs

          Ashkenazi Jewish Panel
          Catégorie :
          Cancer
          Sub Category:
          Ashkenazi Jewish Panel
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          North York General Hospital
          Rechercher:
          Ashkenazi Jewish Panel
          Rechercher:
          North York General Hospital
          Rechercher:

          Ashkenazi Jewish Panel

          Rechercher:

          APC NM_000038.6 c.3920T>A (p.Ile1307Lys) (APC I1307K), BRCA1 NM_007294.3 c.68_69del (p.Glu23Valfs*17) 185delAG, BRCA2 NM_000059.3 c.5946del (p.Ser1982Argfs*22) 617delT, CHEK2 NM_007194.3 c.1283C>T (p.Ser428Phe) c.620C>T NM_001257387, GREM1 NM_013372.6 CNV analysis, MSH2 NM_000251.2 c.1906G>C (p.Ala636Pro) A636P, MSH6 NM_000179.2 c.3984_3987dupGTCA (p.Leu1330Valfs*12)

          Ashkenazi Jewish Panel
          Catégorie :
          Cancer
          Sub Category:
          Ashkenazi Jewish Panel
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          University Health Network
          Rechercher:
          Ashkenazi Jewish Panel
          Rechercher:
          University Health Network
          Rechercher:

          Ashkenazi Jewish Panel

          Rechercher:

          APC (I1307K), BRCA1 (185delAG or 187delAG), BRCA1 (c.5382insC), BRCA2 (617delT), CHEK2 (1283C>T), GREM1 (40 kb dup), MSH2 (A636P), MSH6 (c.3959_3962delCCAG), MSH6 (c.3984_3987dupGTCA)

          Ashkenazi Jewish Panel
          Catégorie :
          Cancer
          Sub Category:
          Ashkenazi Jewish Panel
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Ashkenazi Jewish Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:

          Ashkenazi Jewish Panel

          Rechercher:

          APC NM_000038.6 c.3920T>A (p.Ile1307Lys) (APC I1307K), BRCA1 NM_007294.3 c.5266dup (p.Gln1756Profs*74) 5382insC, BRCA1 NM_007294.3 c.68_69del (p.Glu23Valfs*17) 185delAG, BRCA2 NM_000059.3 c.5946del (p.Ser1982Argfs*22) 617delT, CHEK2 NM_007194.3 c.1283C>T (p.Ser428Phe) c.620C>T NM_001257387, GREM1 NM_013372.6 CNV analysis, MSH2 NM_000251.2 c.1906G>C (p.Ala636Pro) A636P, MSH6 NM_000179.2 c.3959_3962delCAAG (p.Ala1320Glufs*6), MSH6 NM_000179.2 c.3984_3987dupGTCA (p.Leu1330Valfs*12)

          Ashkenazi Jewish Panel
          Catégorie :
          Cancer
          Sub Category:
          Ashkenazi Jewish Panel
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Ashkenazi Jewish Panel
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:

          Ashkenazi Jewish Panel

          Rechercher:

          APC (I1307K), BRCA1 (185delAG or 187delAG), BRCA1 (5382insC or 5385insC), BRCA2 (617delT), CHEK2 (1283C>T), GREM1 (40 kb dup), MSH2 (A636P), MSH6 (c.3959_3962delCCAG), MSH6 (c.3984_3987dupGTCA)

          Ashkenazi Jewish Panel
          Catégorie :
          Cancer
          Sub Category:
          Ashkenazi Jewish Panel
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Ashkenazi Jewish Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Ashkenazi Jewish Panel

          Rechercher:

          APC NM_000038.6 c.3920T>A (p.Ile1307Lys) (APC I1307K), BRCA1 NM_007294.3 c.5266dup (p.Gln1756Profs*74) 5382insC, BRCA1 NM_007294.3 c.68_69del (p.Glu23Valfs*17) 185delAG, BRCA2 NM_000059.3 c.5946del (p.Ser1982Argfs*22) 617delT, CHEK2 NM_007194.3 c.1283C>T (p.Ser428Phe) c.620C>T NM_001257387, GREM1 NM_013372.6 CNV analysis, MSH2 NM_000251.2 c.1906G>C (p.Ala636Pro) A636P, MSH6 NM_000179.2 c.3959_3962delCAAG (p.Ala1320Glufs*6), MSH6 NM_000179.2 c.3984_3987dupGTCA (p.Leu1330Valfs*12)

          Ataxia Telangiectasia /Nijmegen Breakage Syndrome
          Catégorie :
          Neurogenetics
          Sub Category:
          Ataxia Telangiectasia (Nijmegen Breakage Syndrome)
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Ataxia Telangiectasia /Nijmegen Breakage Syndrome
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Ataxia Telangiectasia, Nijmegen Breakage syndrome, Chromosome Breakage Test

          Rechercher:

          All chromosomes

          Autoinflammatory Disease: AG Panel 4
          Catégorie :
          Immunity
          Sub Category:
          Aicardi-Goutieres Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Autoinflammatory Disease: AG Panel 4
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Aicardi-Goutieres syndrome
          Rechercher:
          ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1

          Autoinflammatory Disease: AI Panel 3
          Catégorie :
          Immunity
          Sub Category:
          Autoinflammatory Disease
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Autoinflammatory Disease: AI Panel 3
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          ARPC1B, CARD14, CDC42, CECR1 (ADA2), COPA, ELANE, IL1RN, IL36RN, LACC1, LPIN2, NLRC4, NOD2, OTULIN, PLCG2, POMP, PSMB8, PSTPIP1, RAB27A, RBCK1, RIPK1, SH3BP2, SLC29A3, TMEM173 (STING1), TNFAIP3, TRNT1

          Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel
          Catégorie :
          Immunity
          Sub Category:
          Hemophagocytic Lymphohistiocytosis (HLH)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Hemophagocytic lympohistiocytosis (HLH) and Macrophage Activation Syndrome (MAS), Hemophagocytic Lymphohistiocytosis (HLH), Macrophage activation syndrome MAS, X- linked lymphoproliferative (XLP) syndromes 1 and 2, Hermansky- Pudlak syndrome types 2 and 9, Chediak-Higashi syndrome, Griscelli syndrome Type 2, Macrophage activation syndrome
          Rechercher:
          AP3B1, BLOC1S6, CD27, ITK, LYST, NLRC4, PRF1, CD70, RAB27A, SH2D1A, SLC7A7, STX11, STXBP2, UNC13D, XIAP, MAGT1

          Autoinflammatory Disease Panel: Recurrent Fever Syndrome
          Catégorie :
          Immunity
          Sub Category:
          Recurrent Fever Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Autoinflammatory Disease Panel: Recurrent Fever Syndrome
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Recurrent Fever Syndrome and Macrophage Activation Syndrome (MAS), Autosomal Dominant Familial Periodic Fever, Blau Syndrome, Cat Eye syndrome, Chronic Infantile Neurological Cutaneous and Articular Syndrome, Cyclic Neutropenia, DADA2 / PAN, Familial Cold Autoinflammatory Syndrome 1, Familial Mediterranean Fever, Hyper IgD Syndrome, Macrophage activation syndrome MAS, Majeed syndrome, Muckle-Wells Syndrome, PAPA (Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome), Periodic Fever, Pityriasis Rubra Pilaris (PRP), Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne, Recurrent fever, Severe congenital neutropenia, TRAPS
          Rechercher:
          MEFV, MVK, NLRP12, NLRP3, TNFRSF1A

          Autosomal dominant PKD Analysis
          Catégorie :
          Renal
          Sub Category:
          Polycystic Kidney Disease
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Autosomal dominant PKD Analysis
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Polycystic Kidney Disease Autosomal Dominant (ADPKD), adult polycystic kidney disease (APKD)
          Rechercher:
          PKD1, PKD2

          Autosomal recessive PKD Analysis
          Catégorie :
          Renal
          Sub Category:
          Polycystic Kidney Disease
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Autosomal recessive PKD Analysis
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Polycystic Kidney Disease Autosomal Recessive (ARPDK), adult polycystic kidney disease (APKD)
          Rechercher:
          PKHD1

          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Catégorie :
          Cancer
          Sub Category:
          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Rechercher:
          Kingston General Hospital
          Rechercher:
          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Rechercher:
          AXIN2

          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Catégorie :
          Cancer
          Sub Category:
          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Rechercher:
          North York General Hospital
          Rechercher:
          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Rechercher:
          AXIN2

          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Catégorie :
          Cancer
          Sub Category:
          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Rechercher:
          AXIN2

          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Catégorie :
          Cancer
          Sub Category:
          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Rechercher:
          AXIN2

          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Catégorie :
          Cancer
          Sub Category:
          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          University Health Network
          Rechercher:
          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Rechercher:
          University Health Network
          Rechercher:
          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Rechercher:
          AXIN2

          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Catégorie :
          Cancer
          Sub Category:
          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          AXIN2-related Attenuated Familial Adenomatous Polyposis
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          AXIN2-related Attenuated Familial Adenomatous Polyposis

          Rechercher:

          AXIN2

          BAP1 Tumour Predisposition/ Mesothelioma
          Catégorie :
          Cancer
          Sub Category:
          BAP1 Tumour Predisposition Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          University Health Network
          Rechercher:
          BAP1 Tumour Predisposition/ Mesothelioma
          Rechercher:
          University Health Network
          Rechercher:
          BAP1 Tumour Predisposition Syndrome
          Rechercher:
          BAP1

          BAP1 Tumour Predisposition Syndrome
          Catégorie :
          Cancer
          Sub Category:
          BAP1 Tumour Predisposition Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          BAP1 Tumour Predisposition Syndrome
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          BAP1 Tumour Predisposition Syndrome
          Rechercher:
          BAP1

          BAP1 Tumour Predisposition Syndrome
          Catégorie :
          Cancer
          Sub Category:
          BAP1 Tumour Predisposition Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          BAP1 Tumour Predisposition Syndrome
          Rechercher:
          North York General Hospital
          Rechercher:
          BAP1 Tumour Predisposition Syndrome
          Rechercher:
          BAP1

          BAP1 Tumour Predisposition Syndrome
          Catégorie :
          Cancer
          Sub Category:
          BAP1 Tumour Predisposition Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          BAP1 Tumour Predisposition Syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:
          BAP1 Tumour Predisposition Syndrome
          Rechercher:
          BAP1

          BAP1 Tumour Predisposition Syndrome
          Catégorie :
          Cancer
          Sub Category:
          BAP1 Tumour Predisposition Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          BAP1 Tumour Predisposition Syndrome
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          BAP1 Tumour Predisposition Syndrome

          Rechercher:

          BAP1

          Basal Cell Nevus Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Basal Cell Nevus Syndrome
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Nevoid Basal Cell Carcinoma Syndrome/ Gorlin Syndrome

          Rechercher:

          PTCH1, SUFU

          Batten Disease
          Catégorie :
          Metabolic
          Sub Category:
          Batten Disease (Neuronal Ceroid Lipofuscinoses)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Batten Disease
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Batten Disease, neuronal ceroid lipofuscinosis (NCL)

          Rechercher:

          CLN2, CLN3, TPP1

          Becker Muscular Dystrophy
          Catégorie :
          Neurogenetics
          Sub Category:
          Becker Muscular Dystrophy
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Becker Muscular Dystrophy
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          BMD, DMD-associated dilated cardiomyopathy
          Rechercher:
          DMD

          Beckwith-Wiedemann Syndrome
          Catégorie :
          Skeletal\Growth
          Sub Category:
          Beckwith-Wiedemann Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Beckwith-Wiedemann Syndrome
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          BWS, Wiedemann-Beckwith Syndrome, IMAGe Syndrome
          Rechercher:
          CDKN1C, H19 (IC1), KCNQ1 (IC2), 11p15

          Beta Thalassemia
          Catégorie :
          Hematology
          Sub Category:
          Beta Thalassemia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Beta Thalassemia
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:

          Beta Thalassemia, beta thalassemia major (Cooley's Anemia), Mediterranean Anemia, beta thalassemia intermedia, beta thalassemia minor (beta thalassemia trait), dominant beta thalassemia

          Rechercher:

          HBB, HBD, HbE, HBG1, HBG2

          Biotinidase Deficiency (BTD gene)
          Catégorie :
          Metabolic
          Sub Category:
          Biotinidase Deficiency
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Biotinidase Deficiency (BTD gene)
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Biotinidase Deficiency, Late-Onset Multiple Carboxylase Deficiency, BTD Deficiency, infantile multiple carboxylase deficiency, juvenile multiple carboxylase deficiency, delayed-onset biotinidase deficiency, profound biotinidase deficiency, partial biotinidase deficiency

          Rechercher:

          BTD

          Birt-Hogg-Dube Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Birt-Hogg-Dube Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Birt-Hogg-Dube Syndrome
          Rechercher:
          North York General Hospital
          Rechercher:
          Birt-Hogg-Dube Syndrome
          Rechercher:
          FLCN

          Birt-Hogg-Dube Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Birt-Hogg-Dube Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Birt-Hogg-Dube Syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Birt-Hogg-Dube Syndrome
          Rechercher:
          FLCN

          Birt-Hogg-Dube Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Birt-Hogg-Dube Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Birt-Hogg-Dube Syndrome
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Birt-Hogg-Dube Syndrome
          Rechercher:
          FLCN

          Birt-Hogg-Dube Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Birt-Hogg-Dube Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Birt-Hogg-Dube Syndrome
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Birt-Hogg-Dube Syndrome
          Rechercher:
          FLCN

          Birt-Hogg-Dube Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Birt-Hogg-Dube Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          University Health Network
          Rechercher:
          Birt-Hogg-Dube Syndrome
          Rechercher:
          University Health Network
          Rechercher:
          Birt-Hogg-Dube Syndrome, BHD syndrome, Fibrofolliculomas with trichodiscomas and acrochordons, BHD, Hornstein-Knickenberg syndrome, Birt Hogg Dube syndrome
          Rechercher:
          FLCN

          Birt-Hogg-Dube Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Birt-Hogg-Dube Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Birt-Hogg-Dube Syndrome
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Birt-Hogg-Dube Syndrome

          Rechercher:

          FLCN

          b-ketothiolase deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Organic Acid Disorders
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          b-ketothiolase deficiency
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Ketothiolase deficiency, Beta-keta thiolase deficiency
          Rechercher:
          ACAT1

          Bloom Syndrome
          Catégorie :
          Hematology
          Sub Category:
          Bloom Syndrome
          Lab:
          Test type:
          Cytogenetic, Targeted Variant
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Bloom Syndrome
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Bloom Syndrome, Sister Chromatid Exchange

          Rechercher:

          All chromosomes, BLM

          Bone Marrow Transplant Testing (BMT)
          Catégorie :
          Multipurpose
          Sub Category:
          Bone Marrow Transplant Testing (BMT)
          Lab:
          Test type:
          Autre
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Bone Marrow Transplant Testing (BMT)
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Engraftment, BMT Monitoring

          Brain Malformation Epilepsy Panel
          Catégorie :
          Neurogenetics
          Sub Category:
          Brain Malformation Epilepsy
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Brain Malformation Epilepsy Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Epilepsy

          Rechercher:

          ACTB, ACTG1, ADGRG1, AKT3, ARFGEF2, ARX, ASNS, ATP1A2, ATP6V0A2, B3GALNT2, DCX, DYNC1H1, FKRP, FKTN, FLNA, GMPPB, GPSM2, GRIN1, KATNB1, KIF2A, LAMA2, LARGE1, NDE1, OCLN, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, SCN3A, SNAP29, SRD5A3, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, VLDLR, WDR62

          Brugada Syndrome Panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Brugada Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Brugada Syndrome Panel
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Brugada Syndrome
          Rechercher:
          SCN5A

          Brugada Syndrome Panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Brugada Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Brugada Syndrome Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Brugada Syndrome
          Rechercher:
          SCN5A

          C9orf72-related disorders
          Catégorie :
          Neurogenetics
          Sub Category:
          C9orf72-related disorders
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          C9orf72-related disorders
          Rechercher:
          North York General Hospital
          Rechercher:
          C9orf72-related disorders
          Rechercher:
          C9orf72 (GGGGCC repeats)

          CACT deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Fatty Acid Oxidation Diseases
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          CACT deficiency
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Carnitine-Acylcarnitine Translocase Deficiency, CACT deficiency
          Rechercher:
          SLC25A20

          CADASIL
          Catégorie :
          Neurogenetics
          Sub Category:
          CADASIL
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          CADASIL
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), hereditary multi-infarct dementia

          Rechercher:

          NOTCH3

          Canavan Disease
          Catégorie :
          Skeletal\Growth
          Sub Category:
          Canavan Disease
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Canavan Disease
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          ASPA

          Carney Complex
          Catégorie :
          Cancer
          Sub Category:
          Carney Complex
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Carney Complex
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Carney Complex
          Rechercher:
          PRKAR1A

          Carney Complex
          Catégorie :
          Cancer
          Sub Category:
          Carney Complex
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          University Health Network
          Rechercher:
          Carney Complex
          Rechercher:
          University Health Network
          Rechercher:
          Carney syndrome, CNC, familial myxom, lentigines atrial myxoma and blue nevi (LAMB) syndrome, nevi atrial myxoma myxoid neurofibromas and ephelides (NAME) syndrome
          Rechercher:
          PRKAR1A

          Carney Complex
          Catégorie :
          Cancer
          Sub Category:
          Carney Complex
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Carney Complex
          Rechercher:
          North York General Hospital
          Rechercher:
          Carney Complex
          Rechercher:
          PRKAR1A

          Carney Complex
          Catégorie :
          Cancer
          Sub Category:
          Carney Complex
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Carney Complex
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Carney Complex
          Rechercher:
          PRKAR1A

          Carney Complex
          Catégorie :
          Cancer
          Sub Category:
          Carney Complex
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Carney Complex
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Carney Complex
          Rechercher:
          PRKAR1A

          Carney Complex
          Catégorie :
          Cancer
          Sub Category:
          Carney Complex
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Carney Complex
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Carney Complex

          Rechercher:

          PRKAR1A

          Carnitine Uptake Deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Fatty Acid Oxidation Diseases
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Carnitine Uptake Deficiency
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          carnitine transporter deficiency, carnitine uptake defect, carnitine uptake deficiency, CUD, CDSP
          Rechercher:
          SLC22A5

          Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
          Rechercher:
          CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN

          Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
          Rechercher:
          CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN

          Central Nervous System Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Central Nervous System (CNS) Tumours
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Central Nervous System Cancer Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Central Nervous System Gene Panel, Neurofibromatosis type 1, Schwannomatosis, tuberous sclerosis, Familial adenomatous polyposis, Lynch Syndrome Panel, Von Hippel-Lindau Syndrome

          Rechercher:

          APC, EPCAM, LZTR1, MLH1, MSH2, MSH6, NF1, NF2, PMS2, POLE, POT1, PTCH1, PTEN, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL

          Charcot-Marie-Tooth Gene Panels
          Catégorie :
          Neurogenetics
          Sub Category:
          Charcot-Marie-Tooth disease
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Charcot-Marie-Tooth Gene Panels
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Charcot Marie Tooth disease (CMT), hereditary motor and sensory neuropathy (HMSN), distal hereditary motor neuropathy (dHMN), hereditary sensory neuropathy (HSN or HSAN), distal spinal muscular atrophy (DSMA), Dejerine-Sottas syndrome (DSS)

          Rechercher:

          AARS, ABHD12, AHNAK2, AIFM1, ARHGEF10, ARHGEF28, ATP1A1, ATP7A, BAG3, BSCL2, C1orf194, CNTNAP1, DCTN1, DCTN2, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, JAG1, KARS, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, NAGLU, NDRG1, NEFH, NEFL, PDK3, PDXK, PLEKHG5, PMP2, PMP22, PNKP, PRPS1, PRX, PTRH2, RAB7A, SBF1, SBF2, SCO2, SELRC1, SEPT9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC9A3R1, SORD, SPG11, SPTLC1, SURF1, TFG, TRIM2, TRPV4, TTR, VCP, VRK1, WARS, YARS

          Childhood Onset Epilepsy Panel
          Catégorie :
          Neurogenetics
          Sub Category:
          Childhood onset Epilepsy
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Childhood Onset Epilepsy Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Epilepsy

          Rechercher:

          ADSL, ARX, ATP1A3, ATRX, CDKL5, CHD2, CLCN4, CNTNAP2, DEPDC5, DNAJC5, DYRK1A, EHMT1, FOXG1, GABBR2, GABRB2, GABRG2, GRIN2A, GRIN2D, KANSL1, KCNJ10, KCNMA1, KCNQ3, KDM5C, MBD5, MECP2, MEF2C, NEXMIF, NGLY1, NRXN1, PAK3, PCDH19, PHF6, PIGA, PIGN, PIGO, PNKP, POLG, PRRT2, RAB39B, ROGDI, SCN1A, SCN1B, SCN2A, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMARCA2, STX1B, SYN1, SYNGAP1, TBC1D24, TCF4, TRPM3, TSC1, TSC2, UBE3A, WDR45, ZEB2

          Chondrodysplasia punctata 1
          Catégorie :
          Skeletal\Growth
          Sub Category:
          Chondrodysplasia punctata 1
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Chondrodysplasia punctata 1
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Chondrodysplasia punctata 1

          Rechercher:

          ARSE

          Chromosome analysis
          Catégorie :
          Fertility\Reproductive
          Sub Category:
          Chromosomal Anomalies
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Chromosome analysis
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Infertility, Recurrent pregnancy loss, Disorder of sex development (DSD), Prenatal

          Chronic Granulomatous Disease
          Catégorie :
          Immunity
          Sub Category:
          Primary immune deficiencies
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Chronic Granulomatous Disease
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Chronic Granulomatous Disease (CGD)
          Rechercher:
          CYBA, CYBB, CYBC1, G6PD, NCF1, NCF2, NCF4

          CMT/HMN/HSAN Panel
          Catégorie :
          Neurogenetics
          Sub Category:
          Neuromuscular Disease
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          CMT/HMN/HSAN Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:
          Charcot Marie Tooth disease (CMT), hereditary motor neuropathy (HMN), hereditary sensory and autonomic neuropathy (HSAN)
          Rechercher:
          AARS1, ABCA1, ABHD12, AGTPBP1, AIFM1, APTX, ARHGEF10, ARSA, ATL1, ATL3, ATM, ATP1A1, ATP7A, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, CADM3, CCT5, CD59, CFAP276, CHCHD10, CLTCL1, CNTNAP1, COA7, COX6A1, CPOX, CTDP1, CYP27A1, DARS2, DCAF8, DCTN1, DEGS1, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, ELP1, ERCC6, ERCC8, FAH, FBLN5, FBXO38, FGD4, FIG4, FLVCR1, FXN, GALC, GAN, GARS1, GBA2, GBF1, GDAP1, GJB1, GJB3, GJC2, GLA, GNB4, HADHA, HADHB, HARS1, HINT1, HK1, HMBS, HOXD10, HSPB1, HSPB3, HSPB8, HYCC1, IARS2, IGHMBP2, INF2, ITPR3, JAG1, KARS1, KCNA2, KIF1A, KIF1B, KIF5A, LAMP2, LDB3, LITAF, LMNA, LRSAM1, LYST, MARS1, MCM3AP, MEGF10, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MT-ATP6, MTMR2, MTRFR, MT-RNR1, MT-TL1, MTTP, NAGA, NAGLU, NARS1, NDRG1, NEFH, NEFL, NGF, NHERF1, NMNAT2, NTRK1, OPA1, OPA3, PCK2, PDHA1, PDK3, PEX10, PEX7, PHYH, PLEKHG5, PMM2, PMP2, PMP22, PNKP, POLG, POLR3A, PPOX, PRDM12, PRNP, PRPS1, PRX, PTPN11, RAB7A, REEP1, RETREG1, RFC1, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SCO2, SEPTIN9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SORD, SOX10, SPAST, SPG11, SPTBN4, SPTLC1, SPTLC2, SURF1, SYT2, TFG, TRIM2, TRPA1, TRPV4, TTPA, TTR, TUBB3, TYMP, UBA1, VCP, VPS13A, VRK1, VWA1, WARS1, WNK1, XK, XPA, YARS1, ZFHX2, ZFYVE26

          CNS Tumour
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Central Nervous System (CNS) Tumours
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          CNS Tumour
          Rechercher:
          North York General Hospital
          Rechercher:
          Central Nervous System Tumor
          Rechercher:
          APC, EPCAM, LZTR1, MLH1, MSH2, MSH6, NF1, NF2, PMS2, POLE, POT1, PTCH1, PTEN, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL

          Comprehensive Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Comprehensive Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Comprehensive Cancer Panel
          Rechercher:
          University Health Network
          Rechercher:
          Comprehensive Cancer Panel (76 genes)
          Rechercher:
          AIP, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, EGFR (T790M, V834I, V769M), EGLN1, EPCAM, EXT1, EXT2, FH, FLCN, GALNT12, GREM1, HOXB13 (G84E), KIT, LZTR1, MAX, MEN1, MET, MITF (E318K), MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL, RET, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL

          Comprehensive Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Comprehensive Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Comprehensive Cancer Panel
          Rechercher:
          North York General Hospital
          Rechercher:
          Comprehensive Cancer Panel (76 genes)
          Rechercher:
          AIP, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, EGFR (T790M, V834I, V769M), EGLN1, EPCAM, EXT1, EXT2, FH, FLCN, GALNT12, GREM1, HOXB13 (G84E), KIT, LZTR1, MAX, MEN1, MET, MITF (E318K), MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL, RET, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL

          Comprehensive Epilepsy Panel
          Catégorie :
          Neurogenetics
          Sub Category:
          Epilepsy
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Comprehensive Epilepsy Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Epilepsy

          Rechercher:

          ABAT, ACTB, ACTG1, ADGRG1, ADSL, AKT3, ALDH7A1, ALG13, AMT, AP3B2, ARFGEF2, ARHGEF9, ARV1, ARX, ASAH1, ASNS, ATP1A2, ATP1A3, ATP6V0A2, ATP7A, ATRX, B3GALNT2, CACNA1A, CACNA1E, CAD, CDKL5, CHD2, CHRNA4, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, CTSF, DCX, DEPDC5, DNAJC5, DNM1, DOCK7, DYNC1H1, DYRK1A, EEF1A2, EHMT1, EPM2A, FGF12, FKRP, FKTN, FLNA, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GLDC, GMPPB, GNAO1, GOSR2, GPSM2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, HCN1, HNRNPU, ITPA, KANSL1, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH5, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIF2A, LAMA2, LARGE1, LGI1, MBD5, MDH2, MECP2, MEF2C, MFSD8, MOCS1, NDE1, NEU1, NEXMIF, NGLY1, NHLRC1, NPRL2, NPRL3, NRXN1, OCLN, PAFAH1B1, PAK3, PCDH19, PHF6, PHGDH, PIGA, PIGG, PIGN, PIGO, PIGT, PIGV, PLCB1, PLPBP, PNKP, PNPO, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPT1, PRRT2, PSAT1, PSPH, PURA, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RELN, ROGDI, RTTN, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SERPINI1, SGCE, SLC12A5, SLC13A5, SLC19A3, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SNAP29, SPATA5, SPTAN1, SRD5A3, ST3GAL5, STX1B, STXBP1, SUOX, SYN1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TPP1, TRPM3, TSC1, TSC2, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, UBA5, UBE3A, VLDLR, WDR45, WDR62, WWOX, YWHAG, ZEB2

          Comprehensive Hereditary Breast/Ovarian and GI Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Comprehensive Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Comprehensive Hereditary Breast/Ovarian and GI Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Breast Cancer, Ovarian Cancer, Gastrointestinal Cancer
          Rechercher:
          APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, CTNNA1, EPCAM, GALNT12, GREM1, HOXB13, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, RNF43, RPS20, SDHB, SDHD, SMAD4, STK11, TP53

          Congenital Adrenal Hyperplasia: Other
          Catégorie :
          Endocrinology
          Sub Category:
          Congenital Adrenal Hyperplasia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Congenital Adrenal Hyperplasia: Other
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Congenital Adrenal Hyperplasia (CAH)
          Rechercher:
          ARMC5, CYP11B1, CYP11B2, CYP17A1, HSD3B2, POR, PRKAR1A, STAR

          Congenital and Other Myopathies Panel
          Catégorie :
          Neurogenetics
          Sub Category:
          Neuromuscular Disease
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Congenital and Other Myopathies Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:
          Congenital and Other Myopathies
          Rechercher:
          ACTA1, ACTN2, ACVR1, ADSS1, ASCC3, ATP2A1, BAG3, BICD2, BIN1, CACNA1H, CACNA1S, CASQ1, CAV3, CCDC78, CFL2, CHKB, CLN3, CNTN1, COL12A1, CRYAB, DES, DNAJB4, DNM2, DOK7, ECEL1, EPG5, FHL1, FKBP14, FLNC, FXR1, GATM, GIPC1, HACD1, HNRNPA1, HNRNPA2B1, HRAS, IGHMBP2, ISCU, KBTBD13, KLHL40, KLHL41, KY, LAMA2, LAMP2, LDB3, LMNA, LMOD3, LRP12, MAP3K20, MB, MCOLN1, MEGF10, MICU1, MSTN, MTM1, MYBPC1, MYBPC3, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYO18B, MYOT, MYPN, NEB, PABPN1, PAX7, PIEZO2, PLEC, PYROXD1, RILPL1, RYR1, RYR3, SCN4A, SELENON, SLC25A4, SPEG, SPTBN4, STAC3, STIM1, SVIL, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TPM2, TPM3, TRIM32, TRIM54, TRIM63, TRIP4, TTN, UNC45B, VCP, VMA21

          Congenital Muscle Diseases Panel
          Catégorie :
          Neurogenetics
          Sub Category:
          Neuromuscular Disease
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Congenital Muscle Diseases Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:
          Congenital Muscle Diseases, Congenital myasthenic syndrome (CMS), congenital myopathy (CM), and congenital muscular dystrophy (CMD), congenital myotonic dystrophy.
          Rechercher:
          ACTA1, ACTN2, ACVR1, ADSS1, AGRN, ALG14, ALG2, ASCC3, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, CACNA1H, CACNA1S, CASQ1, CAV3, CCDC78, CFL2, CHAT, CHD8, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLN3, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CRPPA, CRYAB, DAG1, DES, DMD, DNAJB4, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, ECEL1, EPG5, FHL1, FKBP14, FKRP, FKTN, FLNC, FXR1, GAA, GATM, GFPT1, GIPC1, GMPPB, GOLGA2, GOSR2, HACD1, HNRNPA1, HNRNPA2B1, HRAS, IGHMBP2, INPP5K, ISCU, ITGA7, KBTBD13, KLHL40, KLHL41, KY, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LDB3, LMNA, LMOD3, LRP12, LRP4, MAP3K20, MB, MCOLN1, MEGF10, MICU1, MPDU1, MSTN, MSTO1, MTM1, MUSK, MYBPC1, MYBPC3, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOT, MYPN, NEB, PABPN1, PAX7, PIEZO2, PLEC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PURA, PYROXD1, RAPSN, RILPL1, RPH3A, RXYLT1, RYR1, RYR3, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC18A3, SLC25A1, SLC25A4, SLC5A7, SNAP25, SPEG, SPTBN4, STAC3, STIM1, SVIL, SYNE1, SYT2, TCAP, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIM54, TRIM63, TRIP4, TTN, UNC13A, UNC45B, VAMP1, VCP, VMA21

          Congenital Muscular Dystrophies Panel
          Catégorie :
          Neurogenetics
          Sub Category:
          Neuromuscular Disease
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Congenital Muscular Dystrophies Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:
          Congenital Muscular Dystrophies
          Rechercher:
          ACTA1, B3GALNT2, B4GAT1, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DNM2, DOLK, DPM1, DPM2, FHL1, FKRP, FKTN, GAA, GMPPB, GOLGA2, GOSR2, INPP5K, ITGA7, LAMA2, LARGE1, LMNA, MICU1, MPDU1, MSTO1, PLEC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, RYR1, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SYNE1, TCAP, TRAPPC11, TRIP4

          Congenital Muscular Dystrophy
          Catégorie :
          Neurogenetics
          Sub Category:
          Congenital Muscular Dystrophy
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Congenital Muscular Dystrophy
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          FCMD, FKRP, POMGNT1, POMT1, POMT2

          Congenital Myasthenic Syndromes Panel
          Catégorie :
          Neurogenetics
          Sub Category:
          Neuromuscular Disease
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Congenital Myasthenic Syndromes Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:
          Congenital Myasthenic Syndromes
          Rechercher:
          AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, PURA, RAPSN, RPH3A, RYR1, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TOR1AIP1, UNC13A, VAMP1

          Connective Tissue Disease: Bone Involvement Panel
          Catégorie :
          Connective Tissue
          Sub Category:
          Bone Involvement
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Connective Tissue Disease: Bone Involvement Panel
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Achondrogenesis Ib, Achondrogenesis, type IA, Achondrogenesis, type II, Achondroplasia, hypochondroplasia, thanatophoric dysplasia, Campomelic dysplasia, CHILD syndrome, Chondrodysplasia, Chondrodysplasia punctata, Homocystinuria, Stickler type II, Congenital contractural arachnodactyly (Beal), Cranioectodermal dysplasia type 1, Cranioectodermal dysplasia type 2, Cranioectodermal dysplasia type 3, Cranioectodermal dysplasia type 4, Crouzon syndrome, Diastrophic dysplasia, Familial thoracic aortic aneurysm, type 7, Fibrillinopathies including Marfan, Fibrochondrogenesis type 2, Fibrochondrogenesis, Stickler type III, Greenberg dysplasia, Hondrodysplasia punctata, Kniest dysplasia, Langer mesomelic dysplasia, Larsen syndrome, Leri-Weill dyschondrosteosis, Marshall syndrome, Metaphyseal chondrodysplasia, Murk Jansen type, Metatropic dysplasia, Multiple epiphyseal dysplasia, type 1, Multiple epiphyseal dysplasia, type 2, Multiple epiphyseal dysplasia, type 3, Multiple epiphyseal dysplasia, type 4, Multiple epiphyseal dysplasia, type 5, Multiple epiphyseal dysplasia, type 6, Osteopetrosis, type 5, Osteopetrosis, type 6, Pelger-Huet anomaly, Pseudoachondroplasia, Rhizomelic chondrodysplasia punctata, type 1, Schneckenbecken dysplasia, Schwartz-Jampel syndrome, type 1, SED, Maroteaux type, Short-rib thoracic dysplasia type 2 with or without polydactyly, Short-rib thoracic dysplasia type 4 with or without polydactyly, Short-rib thoracic dysplasia type 5 with or without polydactyly, Short-rib thoracic dysplasia type 6 with or without polydactyly, Short-rib thoracic dysplasia type 7 with or without polydactyly, Smith-McCort dysplasia, Spondylocarpotarsal synostosis syndrome, Spondylocheirodysplasia, Ehlers-Danlos syndrome-like syndrome, Spondyloepimetaphyseal dysplasia, Spondyloepiphyseal dysplasia tarda, Spondylo-megaepiphyseal-metaphyseal dysplasia, Spondylometaepiphyseal dysplasia, short limb-hand type, Stickler syndrome, Stickler syndrome, type 4, Stickler syndrome, type 5, Stickler syndrome, type 6, Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Wolcott-Rallison syndrome
          Rechercher:
          ARSE, CBS, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDR2, DYM, EBP, EIF2AK3, FBN1, FBN2, FGFR3, FLNB, HSPG2, IFT122, IFT43, IFT80, LBR, LIFR, MATN3, NEK1, NKX3-2, NSDHL, PEX7, PTH1R, SHOX, SLC26A2, SLC35D1, SLC39A13, SOX9, TRAPPC2, TRIP11, TRPV4, TTC21B, WDR19, WDR35

          Connective Tissue Disease: Ehlers-Danlos Syndrome Panel
          Catégorie :
          Cardiogenetics, Connective Tissue
          Sub Category:
          Ehlers-Danlos Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Connective Tissue Disease: Ehlers-Danlos Syndrome Panel
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          EDS, Ehlers Danlos Syndrome
          Rechercher:
          ACTA2, ADAMTS2, ATP7A, B4GALT7 (no dosage), CHST14, COL3A1, COL5A1, COL5A2, COL1A1, COL1A2, DSE, FBN2, FKBP14, PLOD1, PRDM5, SLC39A13, SMAD3, TGFB2, TGFBR1, TNXB, TGFBR2, ZNF469

          Connective Tissue Disease: Osteogenesis Imperfecta Panel
          Catégorie :
          Connective Tissue
          Sub Category:
          Osteogenesis Imperfecta
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Connective Tissue Disease: Osteogenesis Imperfecta Panel
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          OI, Osteogenesis Imperfecta
          Rechercher:
          ALPL, BMP1, COL1A1, COL1A2, CRTAP, FKBP10, IFITM5, LRP5, MBTPS2, P3H1, PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1, XYLT2

          Connective Tissue Disease: Osteopetrosis and disorders of increased bone density Panel
          Catégorie :
          Connective Tissue
          Sub Category:
          Osteopetrosis and disorders of increased bone density
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Connective Tissue Disease: Osteopetrosis and disorders of increased bone density Panel
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Osteopetrosis, increased bone density
          Rechercher:
          CA2, CLCN7, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFRSF11B, TNFSF11

          Constitutional Chromosome Analysis
          Catégorie :
          Chromosomal Anomalies, Fertility\Reproductive
          Sub Category:
          Chromosomal Anomalies
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Constitutional Chromosome Analysis
          Rechercher:
          Kingston General Hospital
          Rechercher:

          Infertility, Recurrent pregnancy loss, Disorder of sex development (DSD), Prenatal

          Rechercher:

          G-band analysis, Whole Genome

          Constitutional Chromosome Analysis, Routine GTG
          Catégorie :
          Chromosomal Anomalies, Fertility\Reproductive, Limited Access
          Sub Category:
          Chromosomal Anomalies
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Constitutional Chromosome Analysis, Routine GTG
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:

          Ambiguous genitalia, Amenorrhea, Azoospermia/Oligospermia, Klinefelter syndrome, Premature/early menopause, Premature ovarian insufficiency, Recurrent pregnancy loss (≥3), Turner syndrome, Family Hx of Chromosome Rearrangement

          Rechercher:

          chromosome complement

          Constitutional Chromosome Analysis, Routine GTG banding
          Catégorie :
          Chromosomal Anomalies, Fertility\Reproductive, Limited Access
          Sub Category:
          Chromosomal Anomalies
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          North York General Hospital
          Rechercher:
          Constitutional Chromosome Analysis, Routine GTG banding
          Rechercher:
          North York General Hospital
          Rechercher:

          Ambiguous genitalia, Amenorrhea, Azoospermia/Oligospermia, Klinefelter syndrome, Premature/early menopause, Premature ovarian insufficiency, Recurrent pregnancy loss (≥3), Turner syndrome

          Constitutional Chromosome Analysis (Karyotype)
          Catégorie :
          Fertility\Reproductive, Limited Access
          Sub Category:
          Chromosomal Anomalies
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Constitutional Chromosome Analysis (Karyotype)
          Rechercher:
          Mount Sinai Hospital
          Rechercher:

          Infertility, Recurrent pregnancy loss, Disorder of sex development (DSD)

          Constitutional FISH: 22q11.21 Deletion Syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: 22q11.21 Deletion Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Constitutional FISH: 22q11.21 Deletion Syndrome
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          DiGeorge (22q11.21 Deletion Syndrome (DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies), Sedlackova syndrome, Shprintzen Syndrome))

          Rechercher:

          HIRA

          Constitutional FISH: Disorders of sex development
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Disorders of Sex Development
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Constitutional FISH: Disorders of sex development
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Disorders of sex development

          Rechercher:

          DXZ1/SRY/Yq12, SRY/Xcen, XIST/DXZ1

          Constitutional FISH: Kallman Syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Kallmann Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Constitutional FISH: Kallman Syndrome
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Kallman Syndrome

          Rechercher:

          KAL

          Constitutional FISH: Miller-Dieker Syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Miller-Dieker Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Constitutional FISH: Miller-Dieker Syndrome
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Miller-Dieker Syndrome

          Rechercher:

          LIS1

          Constitutional FISH: Smith-Magenis Syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Smith-Magenis Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Constitutional FISH: Smith-Magenis Syndrome
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Smith-Magenis Syndrome

          Rechercher:

          SMS

          Constitutional FISH: Williams Syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Williams Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Constitutional FISH: Williams Syndrome
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Williams Syndrome

          Rechercher:

          ELN

          Constitutional FISH panel: 22q11.21 Deletion Syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: 22q11.21 Deletion Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Constitutional FISH panel: 22q11.21 Deletion Syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:

          22q11.21 Deletion Syndrome (DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies), Sedlackova syndrome, Shprintzen Syndrome)

          Rechercher:

          HIRA (TUPLE1)

          Constitutional FISH panel: Cri-du-Chat Syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Cri-du-Chat Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Constitutional FISH panel: Cri-du-Chat Syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:

          Cri-du-Chat Syndrome (Cri-du-Chat Syndrome, CdCS, 5p-, cat's cry syndrome, Lejeune syndrome)

          Rechercher:

          5p15.2 Region (D5S23/D5S721)

          Constitutional FISH panel: Kallmann Syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Kallmann Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Constitutional FISH panel: Kallmann Syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:

          Kallmann Syndrome (Kallmann Syndrome, Idiopathic Hypogonadotropic Hypogonadism (IHH), Isolated Hypogonadotropic Hypogonadism (IHH), isolated GnRH deficiency (IGD), Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency)

          Rechercher:

          KAL

          Constitutional FISH panel: Smith-Magenis Syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Smith-Magenis Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Constitutional FISH panel: Smith-Magenis Syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:

          Smith-Magenis syndrome (Smith-Magenis syndrome (SMS), Chromosome 17p11.2 deletion syndrome)

          Rechercher:

          SHMT1/TOP3A/FLII/LLGL1

          Constitutional FISH panel: Steroid Sulfatase Deficiency
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Steroid Sulfatase Deficiency
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Constitutional FISH panel: Steroid Sulfatase Deficiency
          Rechercher:
          Kingston General Hospital
          Rechercher:

          Steroid Sulfatase Deficiency (X-Linked Ichthyosis, Steroid Sulfatase Deficiency (SSD), Steroid sulfatase deficiency disease (SSDD), Placental steroid sulfatase deficiency)

          Rechercher:

          STS

          Constitutional FISH panel: Williams Syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Williams Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Constitutional FISH panel: Williams Syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:

          Williams syndrome (Williams syndrome (WS), Williams-Beuren Syndrome (WBS), idiopathic infantile hypercalcemia (IHC), supravalvular aortic stenosis syndrome (SASS), Williams elfin facies syndrome, Beuren Syndrome, Elfin Facies with Hypercalcemia, Hypercalcemia-Supravalvar Aortic Stenosis, Early Hypercalcemia Syndrome with Elfin Facies)

          Rechercher:

          ELN

          Constitutional FISH test: 22q11.21 Deletion Syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: 22q11.21 Deletion Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          North York General Hospital
          Rechercher:
          Constitutional FISH test: 22q11.21 Deletion Syndrome
          Rechercher:
          North York General Hospital
          Rechercher:

          22q11.21 Deletion Syndrome, DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS)

          Rechercher:

          22q11.2 (DiGeorge/VCFS)

          Constitutional FISH Test: Wolf-Hirschhorn syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Wolf-Hirschhorn Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Constitutional FISH Test: Wolf-Hirschhorn syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:

          Wolf-Hirschhorn syndrome (Wolf-Hirschhorn syndrome (WHS), 4p- syndrome, Pitt-Rogers-Danks syndrome (PRDS), monosomy 4p)

          Rechercher:

          NSD2(MMSET)/NELFA(WHSC2)

          CPT1 deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Fatty Acid Oxidation Diseases
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          CPT1 deficiency
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Carnitine palmitoyltransferase I deficiency
          Rechercher:
          CPT1A

          CPT2 deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Fatty Acid Oxidation Diseases
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          CPT2 deficiency
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Carnitine palmitoyltransferase II deficiency
          Rechercher:
          CPT2

          Craniosynostosis Molecular Analysis
          Catégorie :
          Skeletal\Growth
          Sub Category:
          Craniosynostosis
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Craniosynostosis Molecular Analysis
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Non-syndromic Craniosynostosis, Muenke syndrome, Muenke Nonsyndromic Coronal Craniosynostosis, Pfeiffer Syndrome, Acrocephalosyndactyly, Type V, Noack syndrome, Saethre-Chotzen Syndrome, Acrocephalosyndactyly, Type III, Acrocephaly, skull asymmetry and mild syndactyly, Crouzon Syndrome, Craniofacial dysostosis, Type I, Apert Syndrome, Acrocephalosyndactyly, Type I
          Rechercher:
          FGFR1, FGFR2, FGFR3, TWIST1

          Cystic Fibrosis
          Catégorie :
          Respiratory
          Sub Category:
          Cystic Fibrosis
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Cystic Fibrosis
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Cystic Fibrosis, Congenital Bilateral Absence of the Vas Deferens (CBAVD), CFTR-related hereditary pancreatitis, Bronchiectasis, Mucoviscidosis
          Rechercher:
          CFTR

          Cystic Fibrosis
          Catégorie :
          Fertility\Reproductive, Respiratory
          Sub Category:
          Cystic Fibrosis
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Cystic Fibrosis
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Cystic Fibrosis (CF), pancreatic fibrosis, mucoviscidosis, Congenital bilateral absence of vas deferens

          Rechercher:

          CFTR

          Cystinosis
          Catégorie :
          Renal
          Sub Category:
          Cystinosis
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Cystinosis
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Cystinosis, Nephropathic cystinosis, infantile nephropathic type cystinosis, Intermediate cystinosis, adolescent (or juvenile) nephropathic type cystinosis, adult cystinosis, benign cystinosis, ocular cystinosis, non-nephropathic cystinosis, ocular non-nephropathic cystinosis

          Rechercher:

          CTNS

          Deep Vein Thrombosis
          Catégorie :
          Hematology
          Sub Category:
          Thrombophilia (Factor II Prothrombin and V Leiden)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Deep Vein Thrombosis
          Rechercher:
          Kingston General Hospital
          Rechercher:

          Deep Vein Thrombosis (DVT), Thrombophlebitis, Venous thrombosis, Venous thromboembolism (VTE)

          Rechercher:

          F2, F5

          Dentatorubral-pallidoluysian atrophy (DRPLA)
          Catégorie :
          Neurogenetics
          Sub Category:
          Dentatorubral-pallidoluysian atrophy
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Dentatorubral-pallidoluysian atrophy (DRPLA)
          Rechercher:
          North York General Hospital
          Rechercher:
          Dentatorubral-pallidoluysian atrophy (DRPLA)
          Rechercher:
          ATN1 (CAG repeats)

          DICER-associated Syndrome
          Catégorie :
          Cancer
          Sub Category:
          DICER-associated Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          DICER-associated Syndrome
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          DICER-associated Syndrome
          Rechercher:
          DICER1

          DICER-associated Syndrome
          Catégorie :
          Cancer
          Sub Category:
          DICER-associated Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          DICER-associated Syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:
          DICER-associated Syndrome
          Rechercher:
          DICER1

          DICER-associated Syndrome
          Catégorie :
          Cancer
          Sub Category:
          DICER-associated Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          DICER-associated Syndrome
          Rechercher:
          North York General Hospital
          Rechercher:
          DICER-associated Syndrome
          Rechercher:
          DICER1

          DICER-associated Syndrome
          Catégorie :
          Cancer
          Sub Category:
          DICER-associated Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          DICER-associated Syndrome
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          DICER-associated Syndrome
          Rechercher:
          DICER1

          DICER-associated Syndrome
          Catégorie :
          Cancer
          Sub Category:
          DICER-associated Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          University Health Network
          Rechercher:
          DICER-associated Syndrome
          Rechercher:
          University Health Network
          Rechercher:
          DICER-associated Syndrome
          Rechercher:
          DICER1

          DICER-associated Syndrome
          Catégorie :
          Cancer
          Sub Category:
          DICER-associated Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          DICER-associated Syndrome
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          DICER-associated Syndrome

          Rechercher:

          DICER1

          DPYD
          Catégorie :
          Pharmacogenetics
          Sub Category:
          Dihydropyrimidine dehydrogenase deficiency (DPYD)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          DPYD
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:

          Dihydropyrimidine dehydrogenase deficiency, DPYD genotyping, DPYD pharmacogenomics

          Rechercher:

          DPYD

          DPYD
          Catégorie :
          Pharmacogenetics
          Sub Category:
          Dihydropyrimidine dehydrogenase deficiency (DPYD)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Dynacare
          Rechercher:
          DPYD
          Rechercher:
          Dynacare
          Rechercher:

          Dihydropyrimidine dehydrogenase deficiency (DPYD)

          Rechercher:

          DPYD

          DPYD Genotyping
          Catégorie :
          Pharmacogenetics
          Sub Category:
          Dihydropyrimidine dehydrogenase deficiency (DPYD)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          North York General Hospital
          Rechercher:
          DPYD Genotyping
          Rechercher:
          North York General Hospital
          Rechercher:

          Pharmacogenetics, Dihydropyrimidine dehydrogenase deficiency (DPYD)

          Rechercher:

          DPYD (c.1129-5923C>G), DPYD (c.1679T>G), DPYD (c.1905+1G>A), DPYD (c.2846A>T)

          DPYD Genotyping
          Catégorie :
          Pharmacogenetics
          Sub Category:
          Dihydropyrimidine dehydrogenase deficiency (DPYD)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          DPYD Genotyping
          Rechercher:
          Kingston General Hospital
          Rechercher:

          Pharmagogenetics, Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidinuria, DPD deficiency, Familial pyrimidemia, Hereditary thymine-uraciluria

          Rechercher:

          DPYD

          DPYD Genotyping
          Catégorie :
          Pharmacogenetics
          Sub Category:
          Dihydropyrimidine dehydrogenase deficiency (DPYD)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          DPYD Genotyping
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Pharmagogenetics, Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidinuria, DPD deficiency, Familial pyrimidemia, Hereditary thymine-uraciluria

          Rechercher:

          DPYD

          Duchenne Muscular Dystrophy
          Catégorie :
          Neurogenetics
          Sub Category:
          Duchenne Muscular Dystrophy
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Duchenne Muscular Dystrophy
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Duchenne / Becker Muscular Dystrophy
          Rechercher:
          DMD

          Dysplastic Nevus Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Dysplastic Nevus Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Dysplastic Nevus Syndrome
          Rechercher:
          North York General Hospital
          Rechercher:
          Dysplastic Nevus Syndrome
          Rechercher:
          CDK4, CDKN2A

          Dysplastic Nevus Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Dysplastic Nevus Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Dysplastic Nevus Syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Dysplastic Nevus Syndrome
          Rechercher:
          CDK4, CDKN2A

          Dysplastic Nevus Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Dysplastic Nevus Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Dysplastic Nevus Syndrome
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Dysplastic Nevus Syndrome
          Rechercher:
          CDK4, CDKN2A

          Dysplastic Nevus Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Dysplastic Nevus Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Dysplastic Nevus Syndrome
          Rechercher:
          University Health Network
          Rechercher:
          Dysplastic Nevus Syndrome
          Rechercher:
          CDK4, CDKN2A

          Dysplastic Nevus Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Dysplastic Nevus Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Dysplastic Nevus Syndrome
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Dysplastic Nevus Syndrome
          Rechercher:
          CDK4, CDKN2A

          Dysplastic Nevus Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Dysplastic Nevus Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Dysplastic Nevus Syndrome
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Dysplastic Nevus Syndrome

          Rechercher:

          CDK4, CDKN2A

          Early Infantile Epilepsy Panel
          Catégorie :
          Neurogenetics
          Sub Category:
          Early Infantile Epilepsy
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Early Infantile Epilepsy Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Epilepsy

          Rechercher:

          ABAT, ADSL, ALDH7A1, ALG13, AP3B2, ARHGEF9, ARV1, ARX, CACNA1A, CACNA1E, CAD, CDKL5, CHD2, DCX, DNM1, DOCK7, DYRK1A, EEF1A2, FGF12, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GLDC, GNAO1, GRIN2A, GRIN2B, GRIN2D, HCN1, HNRNPU, ITPA, KCNA1, KCNA2, KCNB1, KCNH5, KCNQ2, KCNQ3, KCNT1, MDH2, MECP2, MEF2C, NGLY1, PCDH19, PIGA, PIGG, PIGN, PIGO, PIGT, PIGV, PLCB1, PNKP, PNPO, POLG, PRRT2, PURA, SCN1A, SCN1B, SCN2A, SCN8A, SLC12A5, SLC13A5, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SPATA5, SPTAN1, ST3GAL5, STX1B, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, UBA5, WDR45, WWOX, YWHAG

          Fabry Disease
          Catégorie :
          Metabolic
          Sub Category:
          Fabry Disease
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Fabry Disease
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          GLA deficiency, Alpha-Galactosidase A deficiency, Anderson-Fabry disease, Angiokeratoma Corporis Diffusum, Ceramide Trihexosidase deficiency, Hereditary dystopic lipidosis
          Rechercher:
          GLA

          Facioscapulohumeral Muscular Dystrophy
          Catégorie :
          Neurogenetics
          Sub Category:
          Facioscapulohumeral Muscular Dystrophy
          Lab:
          Test type:
          Autre, Cytogenetic
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Facioscapulohumeral Muscular Dystrophy
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Facioscapulohumeral Muscular Dystrophy (FSHD), FSH Muscular Dystrophy, scapulo-humeral syndromes, scapulo-peroneal syndromes, Landouzy-Dejerine muscular dystrophy

          Rechercher:

          4q35

          Factor II/Factor V
          Catégorie :
          Limited Access
          Sub Category:
          Thrombophilia (Factor II Prothrombin and V Leiden)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Factor II/Factor V
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Prothrombin deficiency, Prothrombin Thrombophilia, F2-related thrombophilia, factor II-related thrombophilia, prothrombin 20210G>A thrombophilia, FII, factor V leiden deficiency, factor V leiden thrombophilia, FV

          Rechercher:

          F2, F5

          Factor V Leiden
          Catégorie :
          Hematology
          Sub Category:
          Thrombophilia (Factor V Leiden)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          North York General Hospital
          Rechercher:
          Factor V Leiden
          Rechercher:
          North York General Hospital
          Rechercher:

          Factor V Leiden Thrombophilia, Hereditary Resistance to Activated Protein C

          Rechercher:

          F5 (c.1601G>A)

          Factor V Leiden
          Catégorie :
          Hematology
          Sub Category:
          Thrombophilia (Factor V Leiden)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Factor V Leiden
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:
          FVL

          Factor V Leiden
          Catégorie :
          Hematology
          Sub Category:
          Thrombophilia (Factor V Leiden)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          St. Michael’s Hospital
          Rechercher:
          Factor V Leiden
          Rechercher:
          St. Michael’s Hospital
          Rechercher:

          Factor V Leiden Thrombophilia, Hereditary Resistance to Activated Protein C

          Rechercher:

          F5

          Factor V Leiden & Factor II Prothrombin
          Catégorie :
          Hematology
          Sub Category:
          Thrombophilia (Factor II Prothrombin and V Leiden)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Factor V Leiden & Factor II Prothrombin
          Rechercher:
          Mount Sinai Hospital
          Rechercher:

          Prothrombin deficiency, Prothrombin Thrombophilia, F2-related thrombophilia, factor II-related thrombophilia, prothrombin 20210G>A thrombophilia, FII, factor V leiden deficiency, factor V leiden thrombophilia, FV

          Rechercher:

          F2 (c.*97G>A), F5 (c.1601G>A)

          Factor V Leiden Thrombophilia
          Catégorie :
          Hematology
          Sub Category:
          Thrombophilia (Factor V Leiden)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Factor V Leiden Thrombophilia
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Factor V Leiden Thrombophilia, Hereditary Resistance to Activated Protein C

          Rechercher:

          F5

          Familial Adenomatous Polyposis (FAP)
          Catégorie :
          Cancer
          Sub Category:
          Familial Adenomatous Polyposis
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Familial Adenomatous Polyposis (FAP)
          Rechercher:
          University Health Network
          Rechercher:
          Familial Adenomatous Polyposis (FAP)
          Rechercher:
          APC, MUTYH (if indicated)

          Familial Adenomatous Polyposis Panel
          Catégorie :
          Cancer
          Sub Category:
          Familial Adenomatous Polyposis
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Familial Adenomatous Polyposis Panel
          Rechercher:
          North York General Hospital
          Rechercher:
          Familial Adenomatous Polyposis (FAP)
          Rechercher:
          APC, indicate +/-MUTYH

          Familial Adenomatous Polyposis Panel
          Catégorie :
          Cancer
          Sub Category:
          Familial Adenomatous Polyposis
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Familial Adenomatous Polyposis Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Familial Adenomatous Polyposis (FAP)
          Rechercher:
          APC, indicate +/-MUTYH

          Familial Dysautonomia
          Catégorie :
          Neurogenetics
          Sub Category:
          Familial Dysautonomia
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Familial Dysautonomia
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          IKBKAP

          Familial Gastrointestinal Stromal Panel
          Catégorie :
          Cancer
          Sub Category:
          Familial Gastrointestinal Stromal (GIST)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Familial Gastrointestinal Stromal Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Familial Gastrointestinal Stromal (GIST)
          Rechercher:
          KIT, PDGFRA, SDHA, SDHAF2, SDHB, SDHC, SDHD

          Familial Gastrointestinal Stromal Panel
          Catégorie :
          Cancer
          Sub Category:
          Familial Gastrointestinal Stromal (GIST)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Familial Gastrointestinal Stromal Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Familial Gastrointestinal Stromal (GIST)

          Rechercher:

          KIT, PDGFRA, SDHA, SDHAF2, SDHB, SDHC, SDHD

          Familial Gastrointestinal Stromal Tumour
          Catégorie :
          Cancer
          Sub Category:
          Familial Gastrointestinal Stromal (GIST)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Familial Gastrointestinal Stromal Tumour
          Rechercher:
          North York General Hospital
          Rechercher:
          Familial Gastrointestinal Stromal (GIST)
          Rechercher:
          KIT, PDGFRA, SDHA, SDHAF2, SDHB, SDHC, SDHD

          Familial Gastrointestinal Stromal Tumour
          Catégorie :
          Cancer
          Sub Category:
          Familial Gastrointestinal Stromal (GIST)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Familial Gastrointestinal Stromal Tumour
          Rechercher:
          University Health Network
          Rechercher:
          Familial Gastrointestinal Stromal (GIST)
          Rechercher:
          KIT, PDGFRA, SDHA, SDHAF2, SDHB, SDHC, SDHD

          Familial Gastrointestinal Stromal Tumour
          Catégorie :
          Cancer
          Sub Category:
          Familial Gastrointestinal Stromal (GIST)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Familial Gastrointestinal Stromal Tumour
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Familial Gastrointestinal Stromal (GIST)
          Rechercher:
          KIT, PDGFRA, SDHA, SDHAF2, SDHB, SDHC, SDHD

          Familial Gastrointestinal Stromal Tumour
          Catégorie :
          Cancer
          Sub Category:
          Familial Gastrointestinal Stromal (GIST)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Familial Gastrointestinal Stromal Tumour
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Familial Gastrointestinal Stromal (GIST)
          Rechercher:
          KIT, PDGFRA, SDHA, SDHAF2, SDHB, SDHC, SDHD

          Familial GI Cancer (Lynch syndrome, Gastric, Pancreas, Polyposis)
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Gastrointestinal Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Familial GI Cancer (Lynch syndrome, Gastric, Pancreas, Polyposis)
          Rechercher:
          University Health Network
          Rechercher:
          Gastrointestinal Cancer, Lynch syndrome, Gastric cancer, Pancreas cancer, Polyposis
          Rechercher:
          APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, CTNNA1, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SDHB, SDHD, SMAD4, STK11, TP53

          Familial Hypercholesterolemia
          Catégorie :
          Endocrinology
          Sub Category:
          Familial Hypercholesterolemia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Familial Hypercholesterolemia
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Familial Hypercholesterolemia (FH), Dyslipidemia
          Rechercher:
          ABCG5, ABCG8, APOB, APOE, LDLR, LDLRAP1, LIPA, PCSK9

          Familial Hypercholesterolemia
          Catégorie :
          Endocrinology
          Sub Category:
          Familial Hypercholesterolemia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Familial Hypercholesterolemia
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:
          Familial Hypercholesterolemia (FH), Dyslipidemia
          Rechercher:
          ABCG5, ABCG8, APOB, APOE, LDLR, LDLRAP1, LIPA, PCSK9

          Familial Hypercholesterolemia
          Catégorie :
          Endocrinology
          Sub Category:
          Familial Hypercholesterolemia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Familial Hypercholesterolemia
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Familial Hypercholesterolemia (FH), Dyslipidemia

          Rechercher:

          ABCG5, ABCG8, APOB, APOE, LDLR, LDLRAP1, LIPA, PCSK9

          Familial Isolated Pituitary Adenoma
          Catégorie :
          Cancer
          Sub Category:
          Familial Isolated Pituitary Adenoma
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Familial Isolated Pituitary Adenoma
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Familial Isolated Pituitary Adenoma
          Rechercher:
          AIP

          Familial Isolated Pituitary Adenoma
          Catégorie :
          Cancer
          Sub Category:
          Familial Isolated Pituitary Adenoma
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Familial Isolated Pituitary Adenoma
          Rechercher:
          North York General Hospital
          Rechercher:
          Familial Isolated Pituitary Adenoma
          Rechercher:
          AIP

          Familial Isolated Pituitary Adenoma
          Catégorie :
          Cancer
          Sub Category:
          Familial Isolated Pituitary Adenoma
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Familial Isolated Pituitary Adenoma
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Familial Isolated Pituitary Adenoma
          Rechercher:
          AIP

          Familial Isolated Pituitary Adenoma
          Catégorie :
          Cancer
          Sub Category:
          Familial Isolated Pituitary Adenoma
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          University Health Network
          Rechercher:
          Familial Isolated Pituitary Adenoma
          Rechercher:
          University Health Network
          Rechercher:
          Familial Isolated Pituitary Adenoma
          Rechercher:
          AIP

          Familial Isolated Pituitary Adenoma
          Catégorie :
          Cancer
          Sub Category:
          Familial Isolated Pituitary Adenoma
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Familial Isolated Pituitary Adenoma
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Familial Isolated Pituitary Adenoma

          Rechercher:

          AIP

          Familial Melanoma
          Catégorie :
          Cancer
          Sub Category:
          Familial Melanoma
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Familial Melanoma
          Rechercher:
          University Health Network
          Rechercher:
          Familial Melanoma
          Rechercher:
          BAP1, BRCA2, CDK4, CDKN2A, MITF, POT1, PTEN

          Familial Melanoma
          Catégorie :
          Cancer
          Sub Category:
          Familial Melanoma
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Familial Melanoma
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Melanoma
          Rechercher:
          BAP1, BRCA2, CDK4, CDKN2A, MITF (E318K), POT1, PTEN

          Familial Melanoma
          Catégorie :
          Cancer
          Sub Category:
          Familial Melanoma
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Familial Melanoma
          Rechercher:
          North York General Hospital
          Rechercher:
          Familial Melanoma
          Rechercher:
          BAP1, BRCA2, CDK4, CDKN2A, MITF (E318K), POT1, PTEN

          Familial Melanoma
          Catégorie :
          Cancer
          Sub Category:
          Familial Melanoma
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Familial Melanoma
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Familial Melanoma
          Rechercher:
          BAP1, BRCA2, CDK4, CDKN2A, MITF (E318K), POT1, PTEN

          Familial Melanoma Panel
          Catégorie :
          Cancer
          Sub Category:
          Familial Melanoma
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Familial Melanoma Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Familial Melanoma
          Rechercher:
          BAP1, BRCA2, CDK4, CDKN2A, MITF, POT1, PTEN

          Familial Melanoma Panel
          Catégorie :
          Cancer
          Sub Category:
          Familial Melanoma
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Familial Melanoma Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Familial Melanoma

          Rechercher:

          BAP1, BRCA2, CDK4, CDKN2A, MITF, POT1, PTEN

          Familial Renal Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Renal Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Familial Renal Cancer
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Renal Cancer, Von Hippel-Lindau Syndrome, BAP1 Tumour Predisposition Syndrome, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, PTEN
          Rechercher:
          BAP1, FH, FLCN, MET, MITF (E318K), PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL

          Familial Renal Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Renal Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Familial Renal Cancer
          Rechercher:
          North York General Hospital
          Rechercher:
          Familial Renal Cancer
          Rechercher:
          BAP1, FH, FLCN, MET, MITF (E318K), PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL

          Familial Renal Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Renal Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Familial Renal Cancer
          Rechercher:
          University Health Network
          Rechercher:
          Von Hippel-Lindau Syndrome, BAP1 Tumour Predisposition Syndrome, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, PTEN Hamartoma Tumour Syndrome, Li-Fraumeni Syndrome, Renal Cell Carcinoma, Tuberous Sclerosis
          Rechercher:
          BAP1, FH, FLCN, MET, MITF, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL

          Familial Renal Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Renal Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Familial Renal Cancer
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Von Hippel-Lindau Syndrome, BAP1 Tumour Predisposition Syndrome, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, PTEN Hamartoma Tumour Syndrome, Li-Fraumeni Syndrome, Renal Cell Carcinoma, Tuberous Sclerosis
          Rechercher:
          BAP1, FH, FLCN, MET, MITF (E318K), PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL

          Familial Renal Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Comprehensive Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Familial Renal Cancer Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Von Hippel-Lindau Syndrome, BAP1 Tumour Predisposition Syndrome, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, PTEN Hamartoma Tumour Syndrome, Li-Fraumeni Syndrome, Renal Cell Carcinoma, Tuberous Sclerosis
          Rechercher:
          BAP1, FH, FLCN, MET, MITF, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL

          Familial Renal Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Renal Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Familial Renal Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Von Hippel-Lindau Syndrome, BAP1 Tumour Predisposition Syndrome, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, PTEN Hamartoma Tumour Syndrome, Li-Fraumeni Syndrome, Renal Cell Carcinoma, Tuberous Sclerosis

          Rechercher:

          BAP1, FH, FLCN, MET, MITF, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL

          Familial Soft Tissue Cancers
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Soft Tissue Sarcomas
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Familial Soft Tissue Cancers
          Rechercher:
          University Health Network
          Rechercher:
          Soft Tissue Sarcoma
          Rechercher:
          APC, ATM, BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, NF1, PMS2, TP53

          Fanconi Anemia (DEB, MMC)
          Catégorie :
          Hematology
          Sub Category:
          Fanconi Anemia
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Fanconi Anemia (DEB, MMC)
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Fanconi Anemia, Chromosome Breakage Test

          Rechercher:

          All Chromosomes

          Fanconi Anemia Group C
          Catégorie :
          Hematology
          Sub Category:
          Fanconi Anemia
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Fanconi Anemia Group C
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          FANCC

          Fatty Acid Oxidation Diseases: Other
          Catégorie :
          Metabolic
          Sub Category:
          Fatty Acid Oxidation Diseases
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Fatty Acid Oxidation Diseases: Other
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Acetyl-CoA transferase, Mitochondrial Complex I Deficiency, Nuclear Type 20, LCAD, SCAD, Enoyl-CoA Hydratase Deficiency, Hydroxyacyl-CoA Dehydrogenase Deficiency (SCHAD).
          Rechercher:
          ACAA2, ACAD9, ACADL, ACADS, ECHS1, HADH

          FISH: 22q11.21 Deletion Syndrome (DiGeorge)
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: 22q11.21 Deletion Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          FISH: 22q11.21 Deletion Syndrome (DiGeorge)
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          22q11.21 Deletion Syndrome (DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies), Sedlackova syndrome, Shprintzen Syndrome)

          Rechercher:

          HIRA (TUPLE1), 22q11.21

          FISH: Angelman Syndrome (AS)
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Angelman/Prader Willi Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          FISH: Angelman Syndrome (AS)
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Angelman Syndrome (AS)

          Rechercher:

          SNRPN (15q11.2)

          FISH: Cri-du-Chat Syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Cri-du-Chat Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          FISH: Cri-du-Chat Syndrome
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Cri-du-Chat Syndrome (Cri-du-Chat Syndrome, CdCS, 5p-, cat's cry syndrome, Lejeune syndrome)

          Rechercher:

          5p15.2, 5p15.31

          FISH: DiGeorge Syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: 22q11.21 Deletion Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          FISH: DiGeorge Syndrome
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          DiGeorge Syndrome (22q11.21 Deletion Syndrome (DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies), Sedlackova syndrome, Shprintzen Syndrome))

          Rechercher:

          22q11.2- HIRA (22q11.2)/ARSA(22q13)

          FISH: Disorders of sex development
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Disorders of Sex Development
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          FISH: Disorders of sex development
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          X/SRY (Yp11.3) , SHOX (Xp22.3/Yp11.3) Deletions

          Rechercher:

          centromere (X/SRY (Yp11.3)),SHOX (Xp22.3/Yp11.3)

          FISH: Disorders of sex development (SRY/DYZ1/DXZ1)
          Catégorie :
          Chromosomal Anomalies, Fertility\Reproductive
          Sub Category:
          FISH: Disorders of Sex Development
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          FISH: Disorders of sex development (SRY/DYZ1/DXZ1)
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Disorder of sex development (Disorder of sex development (DSD), Variations in Sex Characteristics (VSC), congenital adrenal hyperplasia (CAH), androgen insensitivity syndrome (AIS, Testicular feminization syndrome, DHTR deficiency, Androgen receptor deficiency, Dihydrotestosterone receptor deficiency), Klinefelter syndrome (KS), Turner syndrome (45,X syndrome, Bonnevie-Ullrich syndrome, monosomy X, Ullrich-Turner syndrome), Rokitansky syndrome, Mayer-Rokitansky-Küster-Hauser (MRKH syndrome, congenital absence of the uterus and vagina (CAUV), genital renal ear syndrome (GRES), Mullerian agenesis, Mullerian aplasia, Rokitansky syndrome), 46,XX ovotesticular DSD)

          Rechercher:

          SRY, Xp11.1-q11.1, Yp11.31, Yq12

          FISH: Kallmann Syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Kallmann Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          FISH: Kallmann Syndrome
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Kallmann Syndrome (Kallmann Syndrome, Idiopathic Hypogonadotropic Hypogonadism (IHH), Isolated Hypogonadotropic Hypogonadism (IHH), isolated GnRH deficiency (IGD), Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency)

          Rechercher:

          KAL1, Xp22.33

          FISH: Miller-Dieker syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Miller-Dieker Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          FISH: Miller-Dieker syndrome
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Miller-Dieker syndrome (Miller-Dieker syndrome, postaxial acrofacial dysostosis, POADS, Genee-Wiedemann syndrome)

          Rechercher:

          PAFAH1B1 (LIS1), 17p13.3

          FISH: Phelan-McDermid syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Phelan-McDermid Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          FISH: Phelan-McDermid syndrome
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Phelan-McDermid syndrome (Phelan-McDermid syndrome, 22q13.3 Deletion Syndrome, Chromosome 22q13.3 Deletion Syndrome, Deletion 22q13 Syndrome)

          Rechercher:

          SHANK3, 22q13.33

          FISH: Prader-Willi Syndrome (PWS)
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Angelman/Prader Willi Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          FISH: Prader-Willi Syndrome (PWS)
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Prader-Willi Syndrome (PWS)

          Rechercher:

          SNRPN, D15S10 (15q11.2)

          FISH: Saethre-Chotzen
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Saethre-Chotzen Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          FISH: Saethre-Chotzen
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Saethre-Chotzen (Saethre-Chotzen Syndrome, Acrocephalosyndactyly Type III (ACS3), Chotzen syndrome, Blepharophimosis,epicanthus inversus, and ptosis 3)

          Rechercher:

          TWIST1, 7p21.2

          FISH: Smith-Magenis syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Smith-Magenis Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          FISH: Smith-Magenis syndrome
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Smith-Magenis syndrome (Smith-Magenis syndrome (SMS), Chromosome 17p11.2 deletion syndrome)

          Rechercher:

          RAI1, 17p11.2

          FISH: Smith-Magenis Syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Smith-Magenis Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          FISH: Smith-Magenis Syndrome
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Smith-Magenis Syndrome, Microdeletion 22q11.2 Syndrome

          Rechercher:

          RAI1(17p11,.2)/LIS1(17p13.3)

          FISH: Sotos syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Sotos Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          FISH: Sotos syndrome
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Sotos syndrome (Sotos syndrome, cerebral gigantism)

          Rechercher:

          NSD1, 5q35

          FISH: Steroid Sulfatase Deficiency
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Steroid Sulfatase Deficiency
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          FISH: Steroid Sulfatase Deficiency
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Steroid Sulfatase Deficiency (X-Linked Ichthyosis, Steroid Sulfatase Deficiency (SSD), Steroid sulfatase deficiency disease (SSDD), Placental steroid sulfatase deficiency)

          Rechercher:

          STS, Xp11.31

          FISH: Williams syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Williams Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          FISH: Williams syndrome
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Williams syndrome (Williams syndrome (WS), Williams-Beuren Syndrome (WBS), idiopathic infantile hypercalcemia (IHC), supravalvular aortic stenosis syndrome (SASS), Williams elfin facies syndrome, Beuren Syndrome, Elfin Facies with Hypercalcemia, Hypercalcemia-Supravalvar Aortic Stenosis, Early Hypercalcemia Syndrome with Elfin Facies)

          Rechercher:

          ELN, 7q11.23

          FISH: Williams Syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Williams Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          FISH: Williams Syndrome
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Williams Syndrome, 7q11.23 Deletion

          Rechercher:

          7q11.23/7q31

          FISH: Wolf-Hirschhorn syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Wolf-Hirschhorn Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          FISH: Wolf-Hirschhorn syndrome
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Wolf-Hirschhorn syndrome (Wolf-Hirschhorn syndrome (WHS), 4p- syndrome, Pitt-Rogers-Danks syndrome (PRDS), monosomy 4p)

          Rechercher:

          WHSCR, 4p16.3

          FISH: Wolf-Hirschhorn Syndrome
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Wolf-Hirschhorn Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          FISH: Wolf-Hirschhorn Syndrome
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Wolf-Hirschhorn Syndrome, 4p- Syndrome

          Rechercher:

          4p14.3/centromere 4

          FISH Analysis
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: 22q11.21 Deletion Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          FISH Analysis
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:

          22q11.21 Deletion Syndrome (DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies), Sedlackova syndrome, Shprintzen Syndrome)

          Rechercher:

          DiGeorge syndrome (22q11.2/TUPLE1)

          FISH Analysis - Cascade
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH- Cascade
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          FISH Analysis - Cascade
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:

          Chromosome 1-22, X and Y

          Focal Epilepsy Panel
          Catégorie :
          Neurogenetics
          Sub Category:
          Focal Epilepsy
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Focal Epilepsy Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Epilepsy

          Rechercher:

          CHRNA4, CHRNB2, DEPDC5, GRIN2A, KCNT1, LGI1, NPRL2, NPRL3, PRRT2, SCN1A, SCN1B, SLC2A1

          Fragile X (FMR1 gene)
          Catégorie :
          Neurodevelopmental
          Sub Category:
          Fragile X Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Fragile X (FMR1 gene)
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Fragile X syndrome (FXS), fragile X mental retardation, marker X syndrome, Martin-Bell syndrome, Fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary Ovarian Insufficiency (FXPOI), FMR1-related premature ovarian failure, FMR1 primary ovarian insufficiency
          Rechercher:
          FMR1

          Fragile X (FMR1 gene)
          Catégorie :
          Neurodevelopmental
          Sub Category:
          Fragile X Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Fragile X (FMR1 gene)
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          FRAXA syndrome, Fragile X Tremor Ataxia syndrome, FXTAS, FMR1-related primary ovarian insufficiency
          Rechercher:
          FMR1

          Fragile X-associated Premature Ovarian Insufficiency (FXPOI)
          Catégorie :
          Fertility\Reproductive, Neurodevelopmental
          Sub Category:
          Fragile X Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Fragile X-associated Premature Ovarian Insufficiency (FXPOI)
          Rechercher:
          North York General Hospital
          Rechercher:
          fragile X-associated primary Ovarian Insufficiency (FXPOI)
          Rechercher:
          FMR1 (CGG repeats)

          Fragile X-associated tremor/ataxia syndrome
          Catégorie :
          Neurodevelopmental, Neurogenetics
          Sub Category:
          Fragile X Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Fragile X-associated tremor/ataxia syndrome
          Rechercher:
          North York General Hospital
          Rechercher:
          Fragile X-associated tremor/ataxia syndrome (FXTAS)
          Rechercher:
          FMR1 (CGG repeats)

          Fragile X E (FMR2 gene)
          Catégorie :
          Neurodevelopmental
          Sub Category:
          Fragile X Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Fragile X E (FMR2 gene)
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Fragile X E (FRAXE), FRAXE syndrome; Fragile site, folic acid type; X-linked intellectual disability associated with fragile site FRAXE
          Rechercher:
          AFF2 (FMR2)

          Fragile X Syndrome
          Catégorie :
          Neurodevelopmental
          Sub Category:
          Fragile X Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Fragile X Syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Fragile X syndrome (FXS), fragile X mental retardation, marker X syndrome, and Martin-Bell syndrome, Fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary Ovarian Insufficiency (FXPOI), FMR1-related premature ovarian failure, FMR1 primary ovarian insufficiency
          Rechercher:
          FMR1

          Fragile X Syndrome (FMR1 gene)
          Catégorie :
          Neurodevelopmental
          Sub Category:
          Fragile X Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Fragile X Syndrome (FMR1 gene)
          Rechercher:
          North York General Hospital
          Rechercher:
          Fragile X syndrome
          Rechercher:
          FMR1 (CGG repeats)

          Friedreich's Ataxia (FRDA)
          Catégorie :
          Neurogenetics
          Sub Category:
          Friedreich's Ataxia (FRDA)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Friedreich's Ataxia (FRDA)
          Rechercher:
          North York General Hospital
          Rechercher:
          Friedreich's Ataxia (FRDA)
          Rechercher:
          FXN (GAA repeats)

          Full mitochondrial nuclear gene panel
          Catégorie :
          Mitochondrial
          Sub Category:
          Mitochondrial nuclear gene
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Full mitochondrial nuclear gene panel
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Nuclear mitochondrial related diseases
          Rechercher:
          AARS2, ABAT, ABCB7, ACACB, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACLY, ACO2, ACSL5, ACSM3, ADAR, ADSL, AFG3L2, AGK, AGL, AGXT2, AIFM1, AK2, AKAP10, AKR7A2, ALDH18A1, ALDH1B1, ALDH5A1, ALDH6A1, ALDH7A1, ALG3, AMPD1, AMT, ANTXR1, AS3MT, ATIC, ATP1A3, ATP10D, ATP5F1A, ATP5F1B, ATP5F1C, ATP5F1D, ATP5F1E, ATP5MC1, ATP5MC2, ATP5MC3, ATP5ME, ATP5MF, ATP5MG, ATP5MGL, ATP5PO, ATP5PB, ATP5PD, ATP5PF, ATPAF1, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, BOLA3, BTD, C1QBP, C19orf12, CA5A, CARS2, CCDC88A, CEP89, CHCHD10, CHDH, CHKB, CISD2, CLN3, CLPB, CLPP, CLYBL, COA1, COA3, COA4, COA5, COA6, COA7, COA8, COASY, COMT, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX11, COX14, COX15, COX16, COX17, COX18, COX19, COX20, COX4I1, COX4I2, COX5A, COX5B, COX6A1, COX6A2, COX6B1, COX6B2, COX6C, COX7A1, COX7A2, COX7B, COX7C, COX8A, CPT1A, CPT1B, CPT2, CYC1, CYCS, CYP11A1, CYP11B1, CYP11B2, D2HGDH, DARS2, DBT, DDAH1, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNAJC30, DNM1L, DNMT1, EARS2, ECHS1, ELAC2, ERAL1, ETFA, ETFB, ETFDH, ETHE1, FA2H, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FH, FLAD1, FOXRED1, FXN, GAA GARS1, GATB, GATC, GATM, GBE1, GCDH, GCSH, GDAP1, GFER, GFM1, GFM2, GLDC, GLRX5, GLS, GTPBP3, GYG2, GYS1, HADHA, HADHB, HARS2, HCCS, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HSPA9, HSPD1, IARS2, IBA57, IDH2, IDH3A, IDH3B, ISCA1, ISCA2, ISCU, IVD, KARS1, KIF5A, KIF21A, KLC2, KYNU, L2HGDH, LARS1, LARS2, LDHA, LIAS, LIPT1, LIPT2, LMBRD1, LONP1, LPIN1, LRPPRC, LYRM4, LYRM7, MARS2, MCEE, MDH2, MECR, MFF, MFN2, MGME1, MICOS13, MICU1, MIPEP, MLYCD, MMAA, MMAB, MMACHC, MPV17, MRM2, MRPL12, MRPL3, MRPL44, MRPS14, MRPS16, MRPS22, MRPS23, MRPS34, MRPS7, MTFMT, MTO1, MTPAP, MTRFR, MTRR, MMUT, NADK2, NARS2, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA3, NDUFA5, NDUFA7, NDUFA8, NDUFA9, NDUFAB1, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFAF8 (C17ORF89), NDUFB1, NDUFB6, NDUFB10, NDUFB11, NDUFB2, NDUFB3, NDUFB4, NDUFB5, NDUFB7, NDUFB8, NDUFB9, NDUFC1, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NFU1, NR2F1, NSUN3, NUBPL, OPA1, OPA3, OXA1L, OXCT1, PANK2, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PET117, PFKM, PGAM2, PGM1, PHKA1, PHKB, PHOX2A, PITRM1, PLA2G6, PLP1, PMPCA, PMPCB, PNPLA8, PNPT1, POLG, POLG2, PPA2, PRPS1, PTCD3, PTS, PUS1, PYGM, QARS1, QDPR, QRSL1, RARS1, RARS2, RMND1, RNASEH1, ROBO3, RRM2B, RTN4IP1, SACS, SARS2, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHAF2, SDHAF3, SDHAF4, SDHB, SDHC, SDHD, SERAC1, SFXN4, SLC16A1, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A19, SLC25A20, SLC25A21, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC52A2, SLC52A3, SNX10, SPATA5, SPG7, SPR, STAR, SUCLA2, SUCLG1, SUOX, SURF1, TACO1, TAFAZZIN, TARS2, TCIRG1, TCN2, TIMM22, TIMM44, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM65, TMEM70, TOMM20, TOP3A, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUBB3, TUBB4A, TUFM, TUSC3, TWNK, TXN2, TYMP, UCHL1, UNG, UQCC1, UQCC2, UQCC3, UQCR10, UQCR11 , UQCRB, UQCRC1, UQCRC2, UQCRFS1, UQCRH, UQCRQ, VARS2, WARS2, WDR73, WFS1, YARS2, YME1L1

          Galactose-1-Phosphate Uridyl Transferase Deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Galactose-1-Phosphate Uridyl Transferase Deficiency
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Galactose-1-Phosphate Uridyl Transferase Deficiency
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:
          Galactosemia, Galactose-1-Phosphate Uridyl Transferase Deficiency (GALT), GALT Deficiency, transferase deficiency galactosemia, classic galactosemia, clinical variant galactosemia, biochemical variant galactosemia (Duarte variant galactosemia)
          Rechercher:
          GALT

          Galactosemia: Other
          Catégorie :
          Metabolic
          Sub Category:
          Galactosemia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Galactosemia: Other
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Galactosemia, Galactose-1-Phosphate Uridyl Transferase Deficiency (GALT), GALT Deficiency, transferase deficiency galactosemia, classic galactosemia, clinical variant galactosemia, biochemical variant galactosemia (Duarte variant galactosemia)
          Rechercher:
          GALE, GALK1, GALM, GLUT2 (SLC2A2)

          Galactosemia-Galactose-1-Phosphate Uridyl Transferase (GALT)
          Catégorie :
          Metabolic
          Sub Category:
          Galactosemia
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Galactosemia-Galactose-1-Phosphate Uridyl Transferase (GALT)
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Galactosemia, Galactose-1-Phosphate Uridyl Transferase Deficiency (GALT), GALT Deficiency, transferase deficiency galactosemia, classic galactosemia, clinical variant galactosemia, biochemical variant galactosemia (Duarte variant galactosemia)

          Rechercher:

          GALT (N314D, Q188R)

          GALT deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Galactosemia
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          GALT deficiency
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Galactosemia
          Rechercher:
          GALT

          Gamma Polymerase Deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Gamma Polymerase Deficiency (POLG)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Gamma Polymerase Deficiency
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:
          Gamma Polymerase Deficiency (POLG)
          Rechercher:
          POLG

          GAMT deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Organic Acid Disorders
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          GAMT deficiency
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          GAMT deficiency
          Rechercher:
          GAMT

          Gastric Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Gastric Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Gastric Cancer Panel
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Gastric Cancer
          Rechercher:
          APC, ATM, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, SDHB, SDHD, SMAD4, STK11, TP53

          Gastric Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Gastric Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Gastric Cancer Panel
          Rechercher:
          North York General Hospital
          Rechercher:
          Gastric Cancer
          Rechercher:
          APC, ATM, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, SDHB, SDHD, SMAD4, STK11, TP53

          General Comprehensive Hereditary Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Comprehensive Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          General Comprehensive Hereditary Cancer Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Comprehensive Cancer Panel (76 genes)
          Rechercher:
          AIP, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, EGFR, EGLN1, EPCAM, EXT1, EXT2, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL, RET, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL

          Genetics - Microarray-constitutional, whole genome
          Catégorie :
          Chromosomal Anomalies, Neurodevelopmental
          Sub Category:
          Microarray: Microduplication/deletion Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          North York General Hospital
          Rechercher:
          Genetics - Microarray-constitutional, whole genome
          Rechercher:
          North York General Hospital
          Rechercher:

          Developmental delay, Intellectual disability, Congenital anomalies, Autism

          Rechercher:

          Genome

          Genetics - microarray-prenatal, whole genome
          Catégorie :
          Chromosomal Anomalies, Fertility\Reproductive
          Sub Category:
          Microarray: Microduplication/deletion Syndrome- Prenatal
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          North York General Hospital
          Rechercher:
          Genetics - microarray-prenatal, whole genome
          Rechercher:
          North York General Hospital
          Rechercher:

          Abnormal prenatal screening, Abnormal ultrasound findings, Multiple congenital anomalies, Advanced maternal age

          Rechercher:

          Genome

          Genomic SNP Microarray - Proband - Blood, Tissue
          Catégorie :
          Chromosomal Anomalies, Neurodevelopmental
          Sub Category:
          Microarray: Microduplication/deletion Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Genomic SNP Microarray - Proband - Blood, Tissue
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Developmental delay and/or multiple congenital anomalies

          Glutaric Aciduria Type 1
          Catégorie :
          Metabolic
          Sub Category:
          Organic Acid Disorders
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Glutaric Aciduria Type 1
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Glutaric Aciduria type I (GA-1), GCDH Deficiency, Glutaric Aciduria Type 1, Glutaryl-CoA Dehydrogenase Deficiency
          Rechercher:
          GCDH

          Glutaric Aciduria type I (GCDH gene)
          Catégorie :
          Metabolic
          Sub Category:
          Glutaric Aciduria type I
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Glutaric Aciduria type I (GCDH gene)
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Glutaric Aciduria type I (GA-1), GCDH Deficiency, Glutaric Aciduria Type 1, Glutaryl-CoA Dehydrogenase Deficiency

          Rechercher:

          GCDH

          Glycogen Storage Disease Type 4
          Catégorie :
          Metabolic
          Sub Category:
          Glycogen Storage Disease Type 4
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Glycogen Storage Disease Type 4
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Glycogen Storage Disease Type 4

          Rechercher:

          GBE1

          Gorlin Syndrome (Nevoid Basal Cell Carcinoma Syndrome)
          Catégorie :
          Cancer
          Sub Category:
          Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Gorlin Syndrome (Nevoid Basal Cell Carcinoma Syndrome)
          Rechercher:
          North York General Hospital
          Rechercher:
          Nevoid Basal Cell Carcinoma Syndrome/ Gorlin Syndrome
          Rechercher:
          PTCH1, SUFU

          GTP Cyclohydrolase-1 related disorders (GCH1)
          Catégorie :
          Neurogenetics
          Sub Category:
          GTP Cyclohydrolase-1 related disorders
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          GTP Cyclohydrolase-1 related disorders (GCH1)
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          GTPCH1-deficient DRD, TH-deficient DRD, Hyperphenylalaninemia, tetrahydrobiopterin-deficient,

          Rechercher:

          GCH1

          Haemochromatosis
          Catégorie :
          Hematology
          Sub Category:
          Hereditary Hemochromatosis
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          North York General Hospital
          Rechercher:
          Haemochromatosis
          Rechercher:
          North York General Hospital
          Rechercher:

          Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis

          Rechercher:

          HFE (c.187C>G), HFE (c.845G>A)

          HCT Full Panel (76 Genes)
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Comprehensive Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          HCT Full Panel (76 Genes)
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Hereditary Cancer Full Panel (76 Genes)
          Rechercher:
          AIP, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, EGFR, EGLN1, EPCAM, EXT1, EXT2, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL, RET, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL

          Hemochromatosis
          Catégorie :
          Hematology
          Sub Category:
          Hereditary Hemochromatosis
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Hemochromatosis
          Rechercher:
          Kingston General Hospital
          Rechercher:

          Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

          Rechercher:

          HFE (p.Cys282Tyr), HFE (p.His63Asp)

          Hemochromatosis
          Catégorie :
          Hematology
          Sub Category:
          Hereditary Hemochromatosis
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Hemochromatosis
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

          Rechercher:

          HFE

          Hemochromatosis Genotype
          Catégorie :
          Hematology
          Sub Category:
          Hereditary Hemochromatosis
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Hemochromatosis Genotype
          Rechercher:
          Mount Sinai Hospital
          Rechercher:

          Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

          Rechercher:

          HFE (c.187C>G), HFE (c.845G>A)

          Hemoglobin Variants
          Catégorie :
          Fertility\Reproductive, Hematology
          Sub Category:
          Hemoglobin Diseases
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Hemoglobin Variants
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:
          Thalassemia, Hemoglobin Variant, Sickle Cell Disease
          Rechercher:
          HBA1, HBB, HBD, HBG1, HBG2

          Hemophilia A
          Catégorie :
          Hematology
          Sub Category:
          Hemophilia A
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          National Inherited Bleeding Disorder Genotyping Laboratory, KGH
          Rechercher:
          Hemophilia A
          Rechercher:
          National Inherited Bleeding Disorder Genotyping Laboratory, KGH
          Rechercher:
          Hemophilia A, Factor VIII Deficiency, classic hemophilia, haemophilia A
          Rechercher:
          F8

          Hemophilia B
          Catégorie :
          Hematology
          Sub Category:
          Hemophilia B
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          National Inherited Bleeding Disorder Genotyping Laboratory, KGH
          Rechercher:
          Hemophilia B
          Rechercher:
          National Inherited Bleeding Disorder Genotyping Laboratory, KGH
          Rechercher:
          Hemophilia B, Christmas Disease, Factor IX Deficiency, royal disease
          Rechercher:
          F9

          Herditary Polyposis Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Polyposis Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Herditary Polyposis Cancer Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          hereditary colorectal cancer, colon cancer
          Rechercher:
          APC, BMPR1A, EPCAM, GALNT12, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, STK11, TP53

          Hereditary Breast/ Ovarian/ Prostate/ Gastrointestinal Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Comprehensive Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Hereditary Breast/ Ovarian/ Prostate/ Gastrointestinal Cancer
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Breast Cancer, Ovarian Cancer, Prostate Cancer, GI Cancer
          Rechercher:
          APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, CTNNA1, EPCAM, GALNT12, GREM1, HOXB13, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, RNF43, RPS20, SDHB, SDHD, SMAD4, STK11, TP53

          Hereditary Breast/Ovarian/Prostate/GI Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Breast, Ovarian, Prostate, GI Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Hereditary Breast/Ovarian/Prostate/GI Cancer
          Rechercher:
          North York General Hospital
          Rechercher:
          Hereditary Breast, Ovarian, Prostate, GI Cancer
          Rechercher:
          APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, CTNNA1, EPCAM, GALNT12, GREM1, HOXB13 (G84E), MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, RNF43, RPS20, SDHB, SDHD, SMAD4, STK11, TP53

          Hereditary Breast/ Ovarian/ Prostate/ Melanoma Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Comprehensive Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Hereditary Breast/ Ovarian/ Prostate/ Melanoma Cancer
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Breast Cancer, Ovarian Cancer, Prostate Cancer, Melanoma
          Rechercher:
          ATM, BAP1, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, HOXB13, MITF , MLH1, MSH2, MSH6, PALB2, PMS2, POT1, PTEN, RAD51C, RAD51D, STK11, TP53

          Hereditary Breast/ Ovarian/ Prostate Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Breast, Ovarian, Prostate Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Hereditary Breast/ Ovarian/ Prostate Cancer
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Breast Cancer, Ovarian Cancer, Prostate Cancer
          Rechercher:
          ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53

          Hereditary Breast/Ovarian/Prostate Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Breast, Ovarian, Prostate Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Hereditary Breast/Ovarian/Prostate Cancer Panel
          Rechercher:
          University Health Network
          Rechercher:
          Breast Cancer, Ovarian Cancer, Prostate Cancer
          Rechercher:
          ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53

          Hereditary Breast/Ovarian/Prostate Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Breast, Ovarian, Prostate Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Hereditary Breast/Ovarian/Prostate Cancer Panel
          Rechercher:
          North York General Hospital
          Rechercher:
          Breast Cancer, Ovarian Cancer, Prostate Cancer
          Rechercher:
          ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, HOXB13 (G84E), MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53

          Hereditary Breast/Ovarian/Prostate Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Breast, Ovarian, Prostate Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Hereditary Breast/Ovarian/Prostate Cancer Panel
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Breast Cancer, Ovarian Cancer, Prostate Cancer
          Rechercher:
          ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53

          Hereditary Breast/Ovarian/Prostate Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Breast, Ovarian, Prostate Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Hereditary Breast/Ovarian/Prostate Cancer Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Breast Cancer, Ovarian Cancer, Prostate Cancer

          Rechercher:

          ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53

          Hereditary Breast/Ovarian & Prostate Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Breast, Ovarian, Prostate Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Hereditary Breast/Ovarian & Prostate Cancer Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Breast Cancer, Ovarian Cancer, Prostate Cancer
          Rechercher:
          ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53

          Hereditary Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Comprehensive Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Hereditary Cancer Panel
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:
          Hereditary Cancer, Breast Cancer, Lynch Syndrome, Hereditary gastrointestinal (GI), pancreatic adenocarcinoma, colon cancer, germline genetic testing, FM, familial, HCT
          Rechercher:
          AIP, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, EGFR, EGLN1, EPCAM, EXT1, EXT2, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL, RET, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL

          Hereditary Cancer Panel: BRCA1/BRCA2 Ashkenazi Jewish mutations panel
          Catégorie :
          Cancer
          Sub Category:
          Ashkenazi Jewish Panel
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Hereditary Cancer Panel: BRCA1/BRCA2 Ashkenazi Jewish mutations panel
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Hereditary Breast Cancer (Ashkenazi Jewish mutations)

          Rechercher:

          BRCA1 (c.5266dupC), BRCA1 (c.68_69delAG), BRCA2 (c.5946delT)

          Hereditary Cancer Panel: Hereditary Breast/ Ovarian/ Prostate (HBOPC)
          Catégorie :
          Cancer
          Sub Category:
          Breast, Ovarian, Prostate
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Hereditary Cancer Panel: Hereditary Breast/ Ovarian/ Prostate (HBOPC)
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Hereditary Breast Cancer, Hereditary Ovarian Cancer, Hereditary Prostate Cancer
          Rechercher:
          ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, HOXB13 (c.251G>A), MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53

          Hereditary Cancer Panel: Hereditary Pancreatic Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Pancreatic Cancer (Adenocarcinoma)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Hereditary Cancer Panel: Hereditary Pancreatic Cancer
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Hereditary Pancreatic Cancer
          Rechercher:
          ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53

          Hereditary Central Nervous System Tumour
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Central Nervous System (CNS) Tumours
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Hereditary Central Nervous System Tumour
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Central Nervous System Gene Panel, Neurofibromatosis type 1, Schwannomatosis, Familial adenomatous polyposis, Lynch Syndrome Panel, Von Hippel-Lindau Syndrome
          Rechercher:
          APC, EPCAM, LZTR1, MLH1, MSH2, MSH6, NF1, NF2, PMS2, POLE, POT1, PTCH1, PTEN, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2

          Hereditary Central Nervous System Tumour
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Central Nervous System (CNS) Tumours
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Hereditary Central Nervous System Tumour
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Central Nervous System Gene Panel, Neurofibromatosis type 1, Schwannomatosis, Familial adenomatous polyposis, Lynch Syndrome Panel, Von Hippel-Lindau Syndrome
          Rechercher:
          APC, EPCAM, LZTR1, MLH1, MSH2, MSH6, NF1, NF2, PMS2, POLE, POT1, PTCH1, PTEN, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL

          Hereditary Central Nervous System Tumours
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Central Nervous System (CNS) Tumours
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Hereditary Central Nervous System Tumours
          Rechercher:
          University Health Network
          Rechercher:
          Central Nervous System Gene Panel, Neurofibromatosis type 1, Schwannomatosis, Familial adenomatous polyposis, Lynch Syndrome Panel, Von Hippel-Lindau Syndrome
          Rechercher:
          APC, EPCAM, LZTR1, MLH1, MSH2, MSH6, NF1, NF2, PMS2, POLE, POT1, PTCH1, PTEN, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL

          Hereditary CNS Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Central Nervous System (CNS) Tumours
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Hereditary CNS Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Central Nervous System Gene Panel, Neurofibromatosis type 1, Schwannomatosis, Familial adenomatous polyposis, Lynch Syndrome Panel, Von Hippel-Lindau Syndrome
          Rechercher:
          APC, EPCAM, LZTR1, MLH1, MSH2, MSH6, NF1, NF2, PMS2, POLE, POT1, PTCH1, PTEN, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL

          Hereditary Comprehensive Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Comprehensive Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Hereditary Comprehensive Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Comprehensive Cancer Panel (76 genes)

          Rechercher:

          AIP, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, EGFR, EGLN1, EPCAM, EXT1, EXT2, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL, RET, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL

          Hereditary Endometrial Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Endometrial Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Hereditary Endometrial Cancer
          Rechercher:
          University Health Network
          Rechercher:
          Endometrial Cancer
          Rechercher:
          BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE, PTEN

          Hereditary Endometrial Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Endometrial Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Hereditary Endometrial Cancer
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Endometrial Cancer
          Rechercher:
          BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE, PTEN

          Hereditary Endometrial Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Endometrial Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Hereditary Endometrial Cancer Panel
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Endometrial Cancer
          Rechercher:
          BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE, PTEN

          Hereditary Endometrial Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Endometrial
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Hereditary Endometrial Cancer Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Endometrial Cancer
          Rechercher:
          BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE, PTEN

          Hereditary Endometrial Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Endometrial Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Hereditary Endometrial Cancer Panel
          Rechercher:
          North York General Hospital
          Rechercher:
          Endometrial Cancer
          Rechercher:
          BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE, PTEN

          Hereditary Endometrial Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Endometrial
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Hereditary Endometrial Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Endometrial Cancer

          Rechercher:

          BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE, PTEN

          Hereditary Gastric Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Gastric Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Hereditary Gastric Cancer
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Gastric Cancer
          Rechercher:
          APC, ATM, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, SDHB, SDHD, SMAD4, STK11, TP53

          Hereditary Gastric Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Gastric Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Hereditary Gastric Cancer
          Rechercher:
          University Health Network
          Rechercher:
          Gastric Cancer
          Rechercher:
          APC, ATM, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, SDHB, SDHD, SMAD4, STK11, TP53

          Hereditary Gastric Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Gastric Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Hereditary Gastric Cancer Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Gastric Cancer
          Rechercher:
          APC, ATM, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, SDHB, SDHD, SMAD4, STK11, TP53

          Hereditary Gastric Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Gastric Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Hereditary Gastric Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Gastric Cancer

          Rechercher:

          APC, ATM, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, SDHB, SDHD, SMAD4, STK11, TP53

          Hereditary Gastrointestinal Cancer (Lynch Syndrome, Gastric, Pancreas, Polyposis)
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Gastrointestinal Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Hereditary Gastrointestinal Cancer (Lynch Syndrome, Gastric, Pancreas, Polyposis)
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Gastrointestinal Cancer, Lynch syndrome, Gastric, Pancreas, Polyposis
          Rechercher:
          APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, CTNNA1, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SDHB, SDHD, SMAD4, STK11, TP53

          Hereditary Gastrointestinal Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Gastrointestinal Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Hereditary Gastrointestinal Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Gastrointestinal Cancer

          Rechercher:

          APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, CTNNA1, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SDHB, SDHD, SMAD4, STK11, TP53

          Hereditary GI (Lynch syndrome, Gastric, Pancreas, Polyposis) Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Gastrointestinal Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Hereditary GI (Lynch syndrome, Gastric, Pancreas, Polyposis) Cancer Panel
          Rechercher:
          North York General Hospital
          Rechercher:
          Gastrointestinal Cancer, Lynch syndrome, Gastric, Pancreas, Polyposis
          Rechercher:
          APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, CTNNA1, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SDHB, SDHD, SMAD4, STK11, TP53

          Hereditary GI (Lynch syndrome, Gastric, Pancreas, Polyposis) Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Gastrointestinal Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Hereditary GI (Lynch syndrome, Gastric, Pancreas, Polyposis) Cancer Panel
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Gastrointestinal Cancer, Lynch syndrome, Gastric, Pancreas, Polyposis
          Rechercher:
          APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, CTNNA1, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SDHB, SDHD, SMAD4, STK11, TP53

          Hereditary GI Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Gastrointestinal Cancer
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Hereditary GI Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Gastrointestinal Cancer
          Rechercher:
          APC,ATM,BMPR1A,BRCA1,BRCA2,CDH1,CDKN2A,CHEK2,CTNNA1,EPCAM,GALNT12,GREM1,MLH1,MSH2,MSH3,MSH6,MUTYH,NTHL1,PALB2,PMS2,POLD1,POLE,PTEN,RNF43,RPS20,SDHB,SDHD,SMAD4,STK11,TP53

          Hereditary Hearing Loss: Common and Non-Syndromic Hearing Loss Panel
          Catégorie :
          Audiology
          Sub Category:
          Common and Non-Syndromic Hearing Loss
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Hereditary Hearing Loss: Common and Non-Syndromic Hearing Loss Panel
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Common and Non-Syndromic Hearing Loss
          Rechercher:
          ACTG1, ADGRV1, CDH23, CHD7, CLDN14, COCH, DFNA5, DFNB59, DIAPH1, ESPN, ESRRB, EYA1, EYA4, GIPC3, GJB2, GJB6, GPSM2, GRHL2, GRXCR1, HGF, ILDR1, KCNE1, KCNQ1, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, OTOA, OTOF, OTOG, OTOGL, PCDH15, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, SERPINB6, SIX1, SLC17A8, SLC26A4, SMPX, STRC, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH2A, WFS1

          Hereditary Hearing Loss: Stickler Syndrome
          Catégorie :
          Audiology, Connective Tissue
          Sub Category:
          Stickler Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Hereditary Hearing Loss: Stickler Syndrome
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Stickler Syndrome
          Rechercher:
          COL11A1, COL11A2, COL2A1, COL9A1, COL9A2

          Hereditary Hearing Loss: Syndromic Hearing Loss
          Catégorie :
          Audiology
          Sub Category:
          Syndromic Hearing Loss
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Hereditary Hearing Loss: Syndromic Hearing Loss
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Treacher Collins syndrome, Waardenburg syndrome, Norrie syndrome, Alport syndrome
          Rechercher:
          COL4A3, COL4A4, COL4A5, EDN3, EDNRB, MITF, NDP, PAX3, SOX10, TCOF1

          Hereditary Hearing Loss: Usher Syndrome
          Catégorie :
          Audiology
          Sub Category:
          Usher Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Hereditary Hearing Loss: Usher Syndrome
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Usher Syndrome
          Rechercher:
          ADGRV1, CDH23, CIB2, CLRN1, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, WHRN

          Hereditary Hemochromatosis
          Catégorie :
          Hematology, Limited Access
          Sub Category:
          Hereditary Hemochromatosis
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Hereditary Hemochromatosis
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

          Rechercher:

          HFE (p.Cys282Tyr), HFE (p.His63Asp)

          Hereditary Hemochromatosis
          Catégorie :
          Hematology
          Sub Category:
          Hereditary Hemochromatosis
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          University Health Network
          Rechercher:
          Hereditary Hemochromatosis
          Rechercher:
          University Health Network
          Rechercher:

          Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

          Rechercher:

          HFE (p.Cys282Tyr), HFE (p.His63Asp)

          Hereditary Hemochromatosis
          Catégorie :
          Hematology
          Sub Category:
          Hereditary Hemochromatosis
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Hereditary Hemochromatosis
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:

          Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

          Rechercher:

          HFE (p.Cys282Tyr), HFE (p.His63Asp), HFE (p.Ser65Cys)

          Hereditary Hemolytic Anemia Panel
          Catégorie :
          Hematology
          Sub Category:
          Hereditary Anemia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Hereditary Hemolytic Anemia Panel
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:
          Hereditary Hemolytic Anemia, Hereditary spherocytosis (HS), Hereditary elliptocytosis (HE), hereditary pyropoikilocytosis (HPP), Dehydrated hereditary stomatocytosis (xerocytosis), RBC Enzymopathies, Hemoglobinopathies
          Rechercher:
          ADD2, AHSP, AK1, ALDOA, ANK1, CDAN1, CDIN1, CYB5R3, DMTN, ENO1, EPB41, EPB42, G6PD, GATA1, GCLC, GPI, GPX1, GSR, GSS, HBA1, HBA2, HBB, HK1, KIF23, KLF1, NT5C3A, PFKM, PGK1, PIEZO1, PKLR, SEC23B, SLC4A1, SPTA1, SPTB, STOM, TPI1

          Hereditary Hemorrhagic Telangiectasia: ACVRL1, ENG
          Catégorie :
          Hematology
          Sub Category:
          Hereditary Hemorrhagic Telangiectasia (HHT)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Hereditary Hemorrhagic Telangiectasia: ACVRL1, ENG
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Hereditary Hemorrhagic Telangiectasia (HHT), Osler-Weber-Rendu Disease, Juvenile Polyposis Syndrome JP/HHT syndrome
          Rechercher:
          ACVRL1, ENG

          Hereditary Hemorrhagic Telangiectasia: SMAD4 Sequencing
          Catégorie :
          Hematology
          Sub Category:
          Hereditary Hemorrhagic Telangiectasia (HHT)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Hereditary Hemorrhagic Telangiectasia: SMAD4 Sequencing
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Hereditary Hemorrhagic Telangiectasia (HHT), Osler-Weber-Rendu Disease, Juvenile Polyposis Syndrome JP/HHT syndrome
          Rechercher:
          SMAD4

          Hereditary Hyperparathyroidism
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Hyperparathyroidism
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Hereditary Hyperparathyroidism
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Familial isolated hyperparathyroidism, Hyperparathyroidism
          Rechercher:
          CDC73, MEN1

          Hereditary Hyperparathyroidism
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Hyperparathyroidism
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Hereditary Hyperparathyroidism
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Familial isolated hyperparathyroidism, Hyperparathyroidism
          Rechercher:
          CDC73, MEN1

          Hereditary Hyperparathyroidism
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Hyperparathyroidism
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Hereditary Hyperparathyroidism
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Familial isolated hyperparathyroidism, Hyperparathyroidism
          Rechercher:
          CDC73, MEN1

          Hereditary Hyperparathyroidism
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Hyperparathyroidism
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Hereditary Hyperparathyroidism
          Rechercher:
          North York General Hospital
          Rechercher:
          Familial isolated hyperparathyroidism, Hyperparathyroidism
          Rechercher:
          CDC73, MEN1

          Hereditary Hyperparathyroidism
          Catégorie :
          Endocrinology
          Sub Category:
          Hereditary Hyperparathyroidism
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Hereditary Hyperparathyroidism
          Rechercher:
          University Health Network
          Rechercher:
          Familial isolated hyperparathyroidism, Hyperparathyroidism
          Rechercher:
          CDC73, MEN1

          Hereditary Hyperparathyroidism
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Hyperparathyroidism
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Hereditary Hyperparathyroidism
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Familial isolated hyperparathyroidism, Hyperparathyroidism

          Rechercher:

          CDC73, MEN1

          Hereditary Leiomyomatosis and Renal Cell Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Leiomyomatosis and Renal Cell Cancer
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Hereditary Leiomyomatosis and Renal Cell Cancer
          Rechercher:
          North York General Hospital
          Rechercher:
          Hereditary Leiomyomatosis and Renal Cell Cancer
          Rechercher:
          FH

          Hereditary Leiomyomatosis and Renal Cell Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Leiomyomatosis and Renal Cell Cancer
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Hereditary Leiomyomatosis and Renal Cell Cancer
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Hereditary Leiomyomatosis and Renal Cell Cancer
          Rechercher:
          FH

          Hereditary Leiomyomatosis and Renal Cell Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Leiomyomatosis and Renal Cell Cancer
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Hereditary Leiomyomatosis and Renal Cell Cancer
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Hereditary Leiomyomatosis and Renal Cell Cancer
          Rechercher:
          FH

          Hereditary Leiomyomatosis and Renal Cell Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Leiomyomatosis and Renal Cell Cancer
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Hereditary Leiomyomatosis and Renal Cell Cancer
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Hereditary Leiomyomatosis and Renal Cell Cancer

          Rechercher:

          FH

          Hereditary Leiomyomatosis and Renal Cell Carcinoma
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Leiomyomatosis and Renal Cell Cancer
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          University Health Network
          Rechercher:
          Hereditary Leiomyomatosis and Renal Cell Carcinoma
          Rechercher:
          University Health Network
          Rechercher:
          Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
          Rechercher:
          FH

          Hereditary Lung Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Lung Cancer
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Hereditary Lung Cancer
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Hereditary Lung Cancer
          Rechercher:
          EGFR

          Hereditary Lung Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Lung Cancer
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Hereditary Lung Cancer
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Hereditary Lung Cancer
          Rechercher:
          EGFR

          Hereditary Lung Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Lung Cancer
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          North York General Hospital
          Rechercher:
          Hereditary Lung Cancer
          Rechercher:
          North York General Hospital
          Rechercher:

          Hereditary Lung Cancer

          Rechercher:

          EGFR (T790M), EGFR (V769M), EGFR (V834I)

          Hereditary Lung Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Lung Cancer
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Hereditary Lung Cancer
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Hereditary Lung Cancer
          Rechercher:
          EGFR

          Hereditary Lung Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Lung Cancer
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          University Health Network
          Rechercher:
          Hereditary Lung Cancer
          Rechercher:
          University Health Network
          Rechercher:

          Hereditary Lung Cancer

          Rechercher:

          EGFR (T790M), EGFR (V769M), EGFR (V834I)

          Hereditary Lung Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Lung Cancer
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Hereditary Lung Cancer
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Hereditary Lung Cancer

          Rechercher:

          EGFR

          Hereditary Lynch Syndrome Panel
          Catégorie :
          Cancer
          Sub Category:
          Lynch Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Hereditary Lynch Syndrome Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Lynch Syndrome

          Rechercher:

          EPCAM, MLH1, MSH2, MSH6, PMS2

          Hereditary Pancreatic Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Pancreatic Cancer (Adenocarcinoma)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Hereditary Pancreatic Cancer
          Rechercher:
          University Health Network
          Rechercher:
          Pancreatic Cancer, Adenocarcinoma
          Rechercher:
          ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53

          Hereditary Pancreatic Cancer
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Pancreatic Cancer (Adenocarcinoma)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Hereditary Pancreatic Cancer
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Pancreatic Cancer
          Rechercher:
          ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53

          Hereditary Pancreatic Cancer Panel (Adenocarcinoma)
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Pancreatic Cancer (Adenocarcinoma)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Hereditary Pancreatic Cancer Panel (Adenocarcinoma)
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Pancreatic Cancer, Adenocarcinoma
          Rechercher:
          ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53

          Hereditary Pancreatic Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Pancreatic Cancer (Adenocarcinoma)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Hereditary Pancreatic Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Pancreatic Cancer, Adenocarcinoma

          Rechercher:

          ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53

          Hereditary Pheochromocytoma/Paraganglioma Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Pheochromocytoma and Paraganglioma
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Hereditary Pheochromocytoma/Paraganglioma Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Pheochromocytoma, Paraganglioma

          Rechercher:

          FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

          Hereditary Pheochromocytoma and Paraganglioma
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Pheochromocytoma and Paraganglioma
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Hereditary Pheochromocytoma and Paraganglioma
          Rechercher:
          North York General Hospital
          Rechercher:
          Pheochromocytoma, Paraganglioma
          Rechercher:
          FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

          Hereditary Pheochromocytoma and Paraganglioma
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Pheochromocytoma and Paraganglioma
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Hereditary Pheochromocytoma and Paraganglioma
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Pheochromocytoma, Paraganglioma
          Rechercher:
          FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

          Hereditary Pheochromocytoma and Paraganglioma
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Pheochromocytoma and Paraganglioma
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Hereditary Pheochromocytoma and Paraganglioma
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Pheochromocytoma, Paraganglioma
          Rechercher:
          FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

          Hereditary Pheochromocytoma and Paraganglioma Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Pheochromocytoma and Paraganglioma
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Hereditary Pheochromocytoma and Paraganglioma Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Pheochromocytoma, Paraganglioma
          Rechercher:
          FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

          Hereditary Pheochromocytoma and Paraganglioma Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Pheochromocytoma and Paraganglioma
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Hereditary Pheochromocytoma and Paraganglioma Syndrome
          Rechercher:
          University Health Network
          Rechercher:
          Pheochromocytoma, Paraganglioma, Von Hippel Lindau, Neurofibromatosis type I, Multiple Endocrine Neoplasia (Types 1 and 2)

          Hereditary Polyposis
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Polyposis Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Hereditary Polyposis
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          hereditary colorectal cancer, colon cancer
          Rechercher:
          EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, STK11, TP53, APC, BMPR1A

          Hereditary Polyposis Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Polyposis Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Hereditary Polyposis Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          hereditary colorectal cancer, colon cancer

          Rechercher:

          APC, BMPR1A, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, STK11, TP53

          Hereditary sensory neuropathy type IA
          Catégorie :
          Neurogenetics
          Sub Category:
          Hereditary Sensory Neuropathy
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Hereditary sensory neuropathy type IA
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Hereditary sensory neuropathy type IA, HSAN, SPTLC1

          Rechercher:

          SPTLC1

          Hereditary Soft Tissue Carcinoma Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Soft Tissue Sarcomas
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Hereditary Soft Tissue Carcinoma Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Soft Tissue Carcinoma
          Rechercher:
          APC, ATM, BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, NF1, PMS2, TP53

          Hereditary Soft Tissue Tumour
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Soft Tissue Sarcomas
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Hereditary Soft Tissue Tumour
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Soft Tissue Sarcoma
          Rechercher:
          APC, ATM, BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, NF1, PMS2, TP53

          Hereditary Spastic Paraplegia: Comprehensive
          Catégorie :
          Neurogenetics
          Sub Category:
          Hereditary Spastic Paraplegia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Hereditary Spastic Paraplegia: Comprehensive
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Hereditary Spastic Paraplegia
          Rechercher:
          ABCD1, ADAR, ALDH18A1, ALS2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ATL1, ATP13A2, B4GALNT1, BSCL2, C19orf12, CAPN1, CPT1C, CYP2U1, CYP7B1, DDHD1, DDHD2, ERLIN1, ERLIN2, FA2H, FAR1, FARS2, GBA2, HACE1, HPDL, HSPD1, IBA57, IFIH1, KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, MAG, MTRFR, NIPA1, NT5C2, PCYT2, PLP1, PNPLA6, POLG, POLR3A, POLR3B, REEP1, REEP2, RNF170, RTN2, SACS, SELENOI, SETX, SLC16A2, SPART, SPAST, SPG11, SPG21, SPG7, TECPR2, TFG, TUBB4A, UBAP1, UCHL1, VPS13D, WASHC5, ZFYVE26

          Hereditary Thrombophilia
          Catégorie :
          Hematology
          Sub Category:
          Thrombophilia (Factor II Prothrombin and V Leiden)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Hereditary Thrombophilia
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:

          prothrombin deficiency, Prothrombin Thrombophilia, F2-related thrombophilia, factor II-related thrombophilia, prothrombin 20210G>A thrombophilia, FII, factor V leiden deficiency, factor V leiden thrombophilia, FV

          Rechercher:

          F2 (c.*97G>A), F5 (c.1601G>A)

          Homocystinuria
          Catégorie :
          Metabolic
          Sub Category:
          Amino Acid Disorders
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Homocystinuria
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Adenosine Kinase Deficiency, SAH Deficiency, Cystathionine Beta-Synthase Deficiency, Homocystinuria, Glycine N-Methyltransferase Deficiency, MAT Deficiency, Citrin Deficiency, Methylenetetrahydrofolate Reductase Deficiency, CblE, CblG
          Rechercher:
          ADK, AHCY, CBS, GNMT, MAT1A, SLC25A13, MTHFR, MTR, MTRR

          Homocystinuria: Hypermethioninemia
          Catégorie :
          Metabolic
          Sub Category:
          Amino Acid Disorders
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Homocystinuria: Hypermethioninemia
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Hypermethioninemia, homocystinuria
          Rechercher:
          ADK, AHCY, CBS, GNMT, MAT1A, SLC25A13

          Homocystinuria: Hypomethioninemia
          Catégorie :
          Metabolic
          Sub Category:
          Amino Acid Disorders
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Homocystinuria: Hypomethioninemia
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Hypomethioninemia, homocystinuria
          Rechercher:
          MTHFR, MTR, MTRR

          Huntington Disease (HD)
          Catégorie :
          Neurogenetics
          Sub Category:
          Huntington Disease (HD)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Huntington Disease (HD)
          Rechercher:
          North York General Hospital
          Rechercher:
          Huntington Disease (HD)
          Rechercher:
          HTT (CAG repeats)

          Hydroxyglutaric Aciduria
          Catégorie :
          Mitochondrial
          Sub Category:
          Mitochondrial nuclear gene
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Hydroxyglutaric Aciduria
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Hydroxyglutaric Aciduria, Isocitrate Dehydrogenase Type 2 Deficiency, Combined Hydroxyglutaric Aciduria
          Rechercher:
          L2HGDH, D2HGDH, IDH2, SLC25A1

          Hyperferritinemia Cataract Syndrome
          Catégorie :
          Ophthalmology
          Sub Category:
          Hyperferritinemia Cataract Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Hyperferritinemia Cataract Syndrome
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:
          Hyperferritinemia Cataract Syndrome (HSC)
          Rechercher:
          FTL

          Hyperkalemic periodic paralysis, type 2
          Catégorie :
          Neurogenetics
          Sub Category:
          Hyperkalemic periodic paralysis
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Hyperkalemic periodic paralysis, type 2
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Hyperkalemic periodic paralysis type 2, HyperKPP, HyperPP, HYPP, adynamia episodica hereditaria, Gamstorp disease, Paramyotonia congenita

          Rechercher:

          SCN4A

          Identity/Zygosity Testing
          Catégorie :
          Multipurpose
          Sub Category:
          Identity testing
          Lab:
          Test type:
          Autre
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Identity/Zygosity Testing
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Identity, Zygosity

          Identity testing
          Catégorie :
          Multipurpose
          Sub Category:
          Identity testing
          Lab:
          Test type:
          Autre
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Identity testing
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Identity testing

          Identity Testing
          Catégorie :
          Multipurpose
          Sub Category:
          Identity testing
          Lab:
          Test type:
          Autre
          Lab/Location:
          North York General Hospital
          Rechercher:
          Identity Testing
          Rechercher:
          North York General Hospital
          Rechercher:

          Identity

          Isobutyryl-CoA dehydrogenase deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Organic Acid Disorders
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Isobutyryl-CoA dehydrogenase deficiency
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Isobutyryl-CoA dehydrogenase deficiency (IBD Deficiency)
          Rechercher:
          ACAD8

          Isovaleric acidemia
          Catégorie :
          Metabolic
          Sub Category:
          Organic Acid Disorders
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Isovaleric acidemia
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Isovaleric acidemia, isovaleric acid CoA dehydrogenase deficiency, IVA
          Rechercher:
          ACADSB, FLAD1, IVD

          Karyotype
          Catégorie :
          Chromosomal Anomalies, Fertility\Reproductive
          Sub Category:
          Chromosomal Anomalies
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Karyotype
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Suspected aneuploidy, Recurrent Miscarriage (>=3), Amenorrhea, Ambiguous genitalia, Infertility, Short Stature, Stillbirth, Klinefelter Syndrome, Neonatal Death

          Karyotype, GTG-banding
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          Chromosomal Anomalies
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Karyotype, GTG-banding
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Ambiguous genitalia, Amenorrhea, Azoospermia/Oligospermia, Klinefelter syndrome, Premature/early menopause, Premature ovarian insufficiency, Recurrent pregnancy loss (≥3), Short stature, Turner syndrome

          Rechercher:

          All Chromosomes

          karyotype (G-banding)
          Catégorie :
          Limited Access
          Sub Category:
          Chromosomal Anomalies
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          karyotype (G-banding)
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:

          Chromosomes 1-22, X and Y

          LCHAD/MTP deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Fatty Acid Oxidation Diseases
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          LCHAD/MTP deficiency
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD), Mitochondrial trifunctional protein deficiency (MTP)
          Rechercher:
          HADHA, HADHB

          Lesch-Nyhan syndrome
          Catégorie :
          Metabolic
          Sub Category:
          Lesch-Nyhan syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Lesch-Nyhan syndrome
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Lesch-Nyhan syndrome

          Rechercher:

          HPRT1

          Li-Fraumeni
          Catégorie :
          Cancer
          Sub Category:
          Li-Fraumeni Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Li-Fraumeni
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Li-Fraumeni Syndrome
          Rechercher:
          TP53

          Li-Fraumeni Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Li-Fraumeni Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Li-Fraumeni Syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Li-Fraumeni Syndrome
          Rechercher:
          TP53

          Li-Fraumeni Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Li-Fraumeni Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Li-Fraumeni Syndrome
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Li-Fraumeni Syndrome
          Rechercher:
          TP53

          Li-Fraumeni Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Li-Fraumeni Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Li-Fraumeni Syndrome
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Li-Fraumeni Syndrome
          Rechercher:
          TP53

          Li-Fraumeni Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Li-Fraumeni Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          University Health Network
          Rechercher:
          Li-Fraumeni Syndrome
          Rechercher:
          University Health Network
          Rechercher:
          Li-Fraumeni Syndrome
          Rechercher:
          TP53

          Li-Fraumeni Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Li-Fraumeni Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Li-Fraumeni Syndrome
          Rechercher:
          North York General Hospital
          Rechercher:
          Li-Fraumeni Syndrome
          Rechercher:
          TP53

          Li-Fraumeni Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Li-Fraumeni Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Li-Fraumeni Syndrome
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Li-Fraumeni Syndrome

          Rechercher:

          TP53

          Loeys-Dietz Syndrome
          Catégorie :
          Cardiogenetics, Connective Tissue
          Sub Category:
          Loeys-Dietz Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Loeys-Dietz Syndrome
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Loeys-Dietz Syndrome, Loeys-Dietz Aortic Aneurysm Syndrome, Marfan syndrome type 2
          Rechercher:
          SLC2A10, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2

          Long QT Syndrome Panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Long QT Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Long QT Syndrome Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Long QT Syndrome
          Rechercher:
          CACNA1C, CALM1, CALM2, CALM3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN5A, TECRL, TRDN

          Long QT Syndrome Panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Long QT Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Long QT Syndrome Panel
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Long QT Syndrome
          Rechercher:
          CACNA1C, CALM1, CALM2, CALM3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN5A, TECRL, TRDN

          Lynch Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Lynch Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Lynch Syndrome
          Rechercher:
          University Health Network
          Rechercher:
          Lynch syndrome, HNPCC
          Rechercher:
          EPCAM, Germline MLH1 (if indicated), MLH1, MSH2, MSH6, PMS2

          Lynch Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Lynch Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Lynch Syndrome
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Lynch Syndrome
          Rechercher:
          EPCAM, MLH1, MSH2, MSH6, PMS2

          Lynch Syndrome Panel
          Catégorie :
          Cancer
          Sub Category:
          Lynch Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Lynch Syndrome Panel
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Lynch Syndrome
          Rechercher:
          EPCAM, MLH1, MSH2, MSH6, PMS2

          Lynch Syndrome Panel
          Catégorie :
          Cancer
          Sub Category:
          Lynch Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Lynch Syndrome Panel
          Rechercher:
          North York General Hospital
          Rechercher:
          Lynch Syndrome
          Rechercher:
          EPCAM, MLH1, MSH2, MSH6, PMS2

          Lynch Syndrome Panel
          Catégorie :
          Cancer
          Sub Category:
          Lynch Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Lynch Syndrome Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Lynch Syndrome
          Rechercher:
          EPCAM, MLH1, MSH2, MSH6, PMS2

          Lysosomal Storage Disorders
          Catégorie :
          Metabolic
          Sub Category:
          Lysosomal Storage Disorders
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Lysosomal Storage Disorders
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Tay–Sachs disease, Sandhoff disease, GM2-gangliosidosis AB variant, Schindler disease, Fabry disease, Krabbe disease, Farber disease, Gaucher disease, Lysosomal acid lipase deficiency, Niemann–Pick disease, Metachromatic leukodystrophy, Multiple sulfatase deficiency, Hurler syndrome, Scheie syndrome, Sanfilippo syndrome, Maroteaux–Lamy syndrome, Sly syndrome, hyaluronidase deficiency, sialidosis, I-cell disease, pseudo-Hurler polydystrophy, phosphotransferase deficiency, mucolipidin 1 deficiency, Niemann–Pick disease, Santavuori–Haltia disease (infantile NCL), Jansky–Bielschowsky disease (late infantile NCL), Batten–Spielmeyer–Vogt disease (juvenile NCL), Kufs disease (adult NCL), Finnish Variant (late infantile), Northern epilepsy, Turkish late infantile, German/Serbian late infantile, Congenital cathepsin D deficiency, Wolman disease, Neuronal ceroid lipofuscinoses, Mucolipidosis, Mucopolysaccharidoses, Glucocerebroside, Sphingomyelinase, Sulfatidosis, Alpha-mannosidosis, Beta-mannosidosis, Aspartylglucosaminuria, Fucosidosis, Cystinosis, Pycnodysostosis, Salla disease (sialic acid storage disease), Infantile free sialic acid storage disease, Pompe disease, Danon disease, Cholesteryl ester storage disease

          Rechercher:

          AGA, ARSA, ARSB, ASAH1, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSD, CTSK, DNAJC5, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, LAMP2, LIPA, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1

          MADD/Glutaric aciduria type 2
          Catégorie :
          Metabolic
          Sub Category:
          Fatty Acid Oxidation Diseases
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          MADD/Glutaric aciduria type 2
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Multiple acyl-CoA dehydrogenase deficiency (MADD), Glutaric acidemia type II
          Rechercher:
          ETFA, ETFB, ETFDH, FLAD1, SLC52A1, SLC52A2, SLC52A3

          Malignant Hyperthermia
          Catégorie :
          Neurogenetics, Pharmacogenetics
          Sub Category:
          Malignant Hyperthermia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Malignant Hyperthermia
          Rechercher:
          University Health Network
          Rechercher:
          Malignant Hyperthermia, Hyperpyrexia, periodic paralysis, rhabdomyolysis
          Rechercher:
          CACNA1S, RYR1

          Maple Syrup Urine Disease
          Catégorie :
          Metabolic
          Sub Category:
          Amino Acid Disorders
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Maple Syrup Urine Disease
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Maple Syrup Urine Disease, BCKD Deficiency, Branched-Chain Ketoacid Dehydrogenase Deficiency, Maple Syrup Disease, MSUD
          Rechercher:
          BCKDHA, BCKDHB, DBT, DLD

          Maple Syrup Urine Disease (BCKDHA)
          Catégorie :
          Metabolic
          Sub Category:
          Maple Syrup Urine Disease
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Maple Syrup Urine Disease (BCKDHA)
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Maple Syrup Urine Disease, BCKD Deficiency, Branched-Chain Ketoacid Dehydrogenase Deficiency, Maple Syrup Disease, MSUD

          Rechercher:

          BCKDHA

          Marfan syndrome
          Catégorie :
          Cardiogenetics, Connective Tissue
          Sub Category:
          Marfan Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Marfan syndrome
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:
          FBN1-Related Marfan Syndrome, Marfan Syndrome, Neonatal Marfan syndrome, Marfan syndrome type 2
          Rechercher:
          FBN1

          Maternal cell contamination
          Catégorie :
          Fertility\Reproductive, Multipurpose
          Sub Category:
          Maternal cell contamination
          Lab:
          Test type:
          Autre
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Maternal cell contamination
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Maternal cell contamination (MCC)

          Maternal Cell Contamination (MCC)
          Catégorie :
          Multipurpose
          Sub Category:
          Maternal cell contamination
          Lab:
          Test type:
          Autre
          Lab/Location:
          North York General Hospital
          Rechercher:
          Maternal Cell Contamination (MCC)
          Rechercher:
          North York General Hospital
          Rechercher:

          Maternal cell contamination (MCC)

          Rechercher:

          Chromosomes 13, 18, 21, X and Y

          Maternal Cell Contamination (MCC)
          Catégorie :
          Multipurpose
          Sub Category:
          Maternal cell contamination
          Lab:
          Test type:
          Autre
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Maternal Cell Contamination (MCC)
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Maternal cell contamination (MCC)

          MCAD deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Fatty Acid Oxidation Diseases
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          MCAD deficiency
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
          Rechercher:
          ACADM

          MECP2 - Rett Syndrome
          Catégorie :
          Neurodevelopmental
          Sub Category:
          Rett Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          MECP2 - Rett Syndrome
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Rett syndrome, Encephalopathy, neonatal severe, Mental retardation, X-linked syndromic

          Rechercher:

          MECP2

          Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD)
          Catégorie :
          Metabolic
          Sub Category:
          Fatty Acid Oxidation Diseases
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD)
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Medium Chain Acyl CoA Dehydrogenase Deficiency, MCAD Deficiency, ACADM deficiency, MCADH deficiency, MCADD

          Rechercher:

          ACADM

          Medium Chain Acyl-Coenzyme Deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Medium Chain Acyl-Coenzyme Deficiency (MCAD Deficiency)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Medium Chain Acyl-Coenzyme Deficiency
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:
          Medium Chain Acyl-Coenzyme Deficiency (MCAD Deficiency)
          Rechercher:
          ACADM

          MEN1 Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          MEN1 Syndrome
          Rechercher:
          North York General Hospital
          Rechercher:
          MEN1 syndrom
          Rechercher:
          CDKN1B, MEN1

          MEN1 Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          MEN1 Syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:
          MEN1 Syndrome
          Rechercher:
          CDKN1B, MEN1

          MEN1 Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          MEN1 Syndrome
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Multiple Endocrine Neoplasia Type 1 & 4, MENS1, MENS4
          Rechercher:
          CDKN1B, MEN1

          MEN1 Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          MEN1 Syndrome
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Multiple Endocrine Neoplasia Type 1 & 4, MENS1, MENS4
          Rechercher:
          CDKN1B, MEN1

          Metachromatic Leukodystrophy
          Catégorie :
          Metabolic
          Sub Category:
          Metachromatic Leukodystrophy
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Metachromatic Leukodystrophy
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:
          Metachromatic Leukodystrophy (MLD), Arylsulfatase A Deficiency, ARSA Deficiency, Greenfield's disease
          Rechercher:
          ARSA

          Metachromatic Leukodystrophy
          Catégorie :
          Metabolic
          Sub Category:
          Metachromatic Leukodystrophy
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Metachromatic Leukodystrophy
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Metachromatic Leukodystrophy

          Rechercher:

          ARSA

          Mevalonic aciduria
          Catégorie :
          Metabolic
          Sub Category:
          Mevalonic aciduria
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Mevalonic aciduria
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Mevalonic aciduria

          Rechercher:

          MVK

          Microarray
          Catégorie :
          Chromosomal Anomalies, Neurodevelopmental
          Sub Category:
          Microarray: Microduplication/deletion Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Microarray
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Developmental Delay, Intellectual Disability, Two or more congenital anomalies

          Microarray (Constitutional) Postnatal, Blood - DIAGNOSTIC Testing
          Catégorie :
          Chromosomal Anomalies, Neurodevelopmental
          Sub Category:
          Microarray: Microduplication/deletion Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Microarray (Constitutional) Postnatal, Blood - DIAGNOSTIC Testing
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:

          Developmental delay, intellectual disability, congenital anomalies

          Rechercher:

          Chromosome complement

          Microarray (Constitutional) Postnatal, Tissue - DIAGNOSTIC Testing
          Catégorie :
          Chromosomal Anomalies, Neurodevelopmental, Limited Access
          Sub Category:
          Microarray: Microduplication/deletion Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Microarray (Constitutional) Postnatal, Tissue - DIAGNOSTIC Testing
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:

          Congenital anomalies, fetal demise

          Rechercher:

          Chromosome complement

          Microarray (Constitutional) Prenatal, Amniotic Fluid- DIAGNOSTIC Testing
          Catégorie :
          Chromosomal Anomalies, Fertility\Reproductive, Limited Access
          Sub Category:
          Microarray: Microduplication/deletion Syndrome- Prenatal
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Microarray (Constitutional) Prenatal, Amniotic Fluid- DIAGNOSTIC Testing
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:

          Abnormal first trimester screening, Abnormal ultrasound findings, History of chromosomal abnormalities

          Rechercher:

          Chromosome complement

          Microarray Analysis
          Catégorie :
          Chromosomal Anomalies, Multiple Congenital Anomalies, Neurodevelopmental
          Sub Category:
          Microarray: Microduplication/deletion Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Microarray Analysis
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Postnatal and perinatal analysis, Intellectual disability, developmental delay, autism spectrum disorders, congenital abnormalities

          Rechercher:

          Affymetrix Cytoscan HD Microarray (oligo+SNP) genomic microarray

          Microarray Follow-up FISH of CNV's
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Microarray Follow-up
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Microarray Follow-up FISH of CNV's
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Familial follow-up testing of CNV detected in proband

          Microarray Follow Up FISH - Proband
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Microarray Follow-up
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Microarray Follow Up FISH - Proband
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Follow up microarray test FISH

          Microarray Follow-up qPCR of CNV's
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          Microarray: Microduplication/deletion Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Microarray Follow-up qPCR of CNV's
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Follow-up of CNV detection in proband

          Microarray Follow-up Study
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          Microarray: Microduplication/deletion Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Microarray Follow-up Study
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Confirming Microarray findings

          Rechercher:

          Custom

          Microarray for Prenatal and Perinatal testing
          Catégorie :
          Chromosomal Anomalies, Fertility\Reproductive
          Sub Category:
          Microarray: Microduplication/deletion Syndrome- Prenatal
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Microarray for Prenatal and Perinatal testing
          Rechercher:
          Mount Sinai Hospital
          Rechercher:

          CNV detection for prenatal and perinatal diagnostics

          Microcephaly, Amish type
          Catégorie :
          Multiple Congenital Anomalies
          Sub Category:
          Microcephaly
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Microcephaly, Amish type
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Microcephaly, Amish type

          Rechercher:

          SLC25A19

          Mitochondrial Encephalopathy/Leigh Disease
          Catégorie :
          Mitochondrial
          Sub Category:
          Mitochondrial nuclear gene
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Mitochondrial Encephalopathy/Leigh Disease
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Mitochondrial Encephalopathy (MELAS), Leigh Disease, subacute necrotizing encephalopathy (SNE)
          Rechercher:
          AARS2, ACAD9, ACO2, AFG3L2, AIFM1, APTX, ATP5F1E, ATPAF2, BCS1L, BOLA3, COQ2, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6B1, COX7A1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, ETFDH, ETHE1, FARS2, FASTKD2, FH, FOXRED1, GFER, GFM1, GFM2, HLCS, HSPD1, LARS2, LIAS, LMBRD1, LRPPRC, MARS2, MFN2, MPV17, MRPS16, MTFMT, MTPAP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA7, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFU1, NUBPL, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PNPT1, POLG, RARS2, RMND1, RRM2B, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHD, SERAC1, SLC19A3, SUCLA2, SUCLG1, SUCLG2, SURF1, TACO1, TIMM44, TK2, TMEM70, TOMM20, TPK1, TRMU, TSFM, TTC19, TUFM, TUSC3, TWNK, TYMP, UQCRB, UQCRQ, YARS2

          Mitochondrial Gene Panels
          Catégorie :
          Mitochondrial
          Sub Category:
          Mitochondrial Genome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Mitochondrial Gene Panels
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Kearns-Sayre Syndrome, Leber's Hereditary Optic Neuropathy (LHON), MELAS, myoclonic epilepsy with ragged red fibers (MERRF), neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP), Pearson marrow pancreas syndrome, Progressive external ophthalmoplegia (PEO), Hepatocerebral mtDNA depletion syndrome (Deoxyguansine kinase deficiency (DGUOK)), Myopathic mtDNA depletion syndrome (Thymidine kinase deficiency (TK2)), SANDO syndrome, ALPERS syndrome, SCAE syndrome, familial PEO

          Rechercher:

          APTX, COX1, COX2, COX3, CYTB, DGUOK, DNA2, FBXL4, GFER, MGME1, MPV17, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, OPA1, OPA3 (isoform A & B), POLG, POLG2, RRM2B, SLC25A4, SPG7 (isoform 1 & 2), SUCLA2, SUCLG1, TK2, TWNK (C10orf2), TYMP

          Mitochondrial Genome Panel
          Catégorie :
          Mitochondrial
          Sub Category:
          Mitochondrial Genome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Mitochondrial Genome Panel
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:
          Kearns-Sayre Syndrome, Leber's Hereditary Optic Neuropathy (LHON), MELAS, myoclonic epilepsy with ragged red fibers (MERRF), neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP), Pearson marrow pancreas syndrome, Progressive external ophthalmoplegia (PEO), Hepatocerebral mtDNA depletion syndrome (Deoxyguansine kinase deficiency (DGUOK)), Myopathic mtDNA depletion syndrome (Thymidine kinase deficiency (TK2)), SANDO syndrome, ALPERS syndrome, SCAE syndrome, familial PEO
          Rechercher:
          MD-CYB, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-T2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY

          MLH1 germline methylation
          Catégorie :
          Cancer
          Sub Category:
          Lynch Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          University Health Network
          Rechercher:
          MLH1 germline methylation
          Rechercher:
          University Health Network
          Rechercher:
          Lynch Syndrome
          Rechercher:
          MLH1

          Molar Pregnancy
          Catégorie :
          Fertility\Reproductive
          Sub Category:
          Molar Pregnancy
          Lab:
          Test type:
          Autre
          Lab/Location:
          North York General Hospital
          Rechercher:
          Molar Pregnancy
          Rechercher:
          North York General Hospital
          Rechercher:

          Molar pregnancy

          Rechercher:

          Chromosomes 13, 18, 21, X and Y

          Mosaic Karyotype
          Catégorie :
          Chromosomal Anomalies, Fertility\Reproductive
          Sub Category:
          Chromosomal Anomalies
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Mosaic Karyotype
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Turner Syndrome, Suspected Mosaicism, Infertility

          Motor Neuronopathies Panel
          Catégorie :
          Neurogenetics
          Sub Category:
          Neuromuscular Disease
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Motor Neuronopathies Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:
          Motor Neuronopathies
          Rechercher:
          ASAH1, BICD2, BSCL2, CHCHD10, DCTN1, DYNC1H1, EXOSC3, GARS1, HINT1, HSPB3, HSPB8, IGHMBP2, REEP1, SLC52A2, SLC52A3, SLC5A7, SMN1, SPG11, TRIP4, TRPV4, UBA1, VRK1, WARS1, AARS1, ASCC1, DNAJB2, FBXO38, HSPB1, PLEKHG5, SETX, SIGMAR1, SYT2, VAPB

          mtDNA depletion and deletion
          Catégorie :
          Mitochondrial
          Sub Category:
          Mitochondrial nuclear gene
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          mtDNA depletion and deletion
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          AGK, DGUOK, DNA2, FBXL4, GFER, MFN2, MGME1, MPV17, OPA1, OPA3, POLG, POLG2, RRM2B, SLC25A4, SUCLA2, SUCLG1, TK2, TWNK, TYMP

          MTHFR
          Catégorie :
          Hematology
          Sub Category:
          Thrombosis
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          University Health Network
          Rechercher:
          MTHFR
          Rechercher:
          University Health Network
          Rechercher:

          Homocystinuria, Hereditary Thrombosis

          Rechercher:

          MTHFR

          Mucolipidosis (Type IV)
          Catégorie :
          Metabolic
          Sub Category:
          Mucolipidosis
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Mucolipidosis (Type IV)
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          MCOLN1

          Mucopolysaccharidosis type 1
          Catégorie :
          Metabolic
          Sub Category:
          Mucopolysaccharidosis type 1
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Mucopolysaccharidosis type 1
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Mucopolysaccharidosis type 1, Hurler Syndrome
          Rechercher:
          IDUA

          Multiple Carboxylase Deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Organic Acid Disorders
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Multiple Carboxylase Deficiency
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Carbonic Anhydrase Deficiency, Holocarboxylase Synthetase Deficiency, Biotinidase Deficiency
          Rechercher:
          CA5A, HLCS, BTD

          Multiple carboxylase Deficiency: Biotinidase Deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Organic Acid Disorders
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Multiple carboxylase Deficiency: Biotinidase Deficiency
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Biotinidase Deficiency, Late-Onset Multiple Carboxylase Deficiency, BTD Deficiency, infantile multiple carboxylase deficiency, juvenile multiple carboxylase deficiency, delayed-onset biotinidase deficiency, profound biotinidase deficiency, partial biotinidase deficiency
          Rechercher:
          BTD

          Multiple carboxylase deficiency: Other
          Catégorie :
          Metabolic
          Sub Category:
          Organic Acid Disorders
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Multiple carboxylase deficiency: Other
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Multiple carboxylase deficiency
          Rechercher:
          CA5A, HLCS

          Multiple Endocrine Neoplasia Type 1
          Catégorie :
          Cancer
          Sub Category:
          Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Multiple Endocrine Neoplasia Type 1
          Rechercher:
          University Health Network
          Rechercher:
          Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 4
          Rechercher:
          CDKN1B, MEN1

          Multiple Endocrine Neoplasia Type 1 & 4
          Catégorie :
          Cancer
          Sub Category:
          Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Multiple Endocrine Neoplasia Type 1 & 4
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Multiple Endocrine Neoplasia Type 1 & 4, MENS1, MENS4

          Rechercher:

          CDKN1B, MEN1

          Multiple Endocrine Neoplasia Type 2
          Catégorie :
          Cancer
          Sub Category:
          Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Multiple Endocrine Neoplasia Type 2
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Multiple Endocrine Neoplasia Type 2
          Rechercher:
          RET

          Multiple Endocrine Neoplasia Type 2
          Catégorie :
          Cancer
          Sub Category:
          Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Multiple Endocrine Neoplasia Type 2
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Multiple Endocrine Neoplasia Type 2
          Rechercher:
          RET

          Multiple Endocrine Neoplasia Type 2
          Catégorie :
          Cancer
          Sub Category:
          Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Multiple Endocrine Neoplasia Type 2
          Rechercher:
          North York General Hospital
          Rechercher:
          Multiple Endocrine Neoplasia Type 2
          Rechercher:
          RET

          Multiple Endocrine Neoplasia Type 2
          Catégorie :
          Cancer
          Sub Category:
          Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          University Health Network
          Rechercher:
          Multiple Endocrine Neoplasia Type 2
          Rechercher:
          University Health Network
          Rechercher:
          Multiple Endocrine Neoplasia Type 2
          Rechercher:
          RET

          Multiple Endocrine Neoplasia Type 2
          Catégorie :
          Cancer
          Sub Category:
          Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Multiple Endocrine Neoplasia Type 2
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Multiple Endocrine Neoplasia Type 2
          Rechercher:
          RET

          Multiple Endocrine Neoplasia Type 2
          Catégorie :
          Cancer
          Sub Category:
          Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Multiple Endocrine Neoplasia Type 2
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Multiple Endocrine Neoplasia Type 2

          Rechercher:

          RET

          Muscle Diseases Panel
          Catégorie :
          Neurogenetics
          Sub Category:
          Neuromuscular Disease
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Muscle Diseases Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:
          Muscle diseases
          Rechercher:
          ABHD5, ACAD9, ACADL, ACADM, ACADVL, ACTA1, ACTN2, ACVR1, ADSS1, AGL, AGRN, ALDOA, ALG14, ALG2, ANO5, ASCC3, ATP1A2, ATP2A1, ATP5F1D, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BVES, C1QBP, CACNA1A, CACNA1H, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHD8, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLCN1, CLN3, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CPT1A, CPT2, CRPPA, CRYAB, DAG1, DES, DGUOK, DMD, DNAJB4, DNAJB6, DNM2, DNMT3B, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, ECEL1, EMD, ENO3, EPG5, ETFA, ETFB, ETFDH, FDX2, FHL1, FKBP14, FKRP, FKTN, FLAD1, FLNC, FXR1, GAA, GATM, GBE1, GFPT1, GGPS1, GIPC1, GMPPB, GNE, GOLGA2, GOSR2, GYG1, GYS1, HACD1, HADHA, HADHB, HNRNPA1, HNRNPA2B1, HNRNPDL, HRAS, IGHMBP2, INPP5K, ISCU, ITGA7, JAG2, KBTBD13, KCNA1, KCNE3, KCNJ2, KLHL40, KLHL41, KY, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LIMS2, LMNA, LMOD3, LPIN1, LRIF1, LRP12, LRP4, MAP3K20, MB, MCOLN1, MEGF10, MGME1, MICU1, MLIP, MPDU1, MSTN, MSTO1, MTM1, MUSK, MYBPC1, MYBPC3, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOT, MYPN, NEB, ORAI1, PABPN1, PAX7, PDSS1, PDSS2, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PIEZO2, PLEC, PNPLA2, PNPLA8, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PREPL, PRKAG2, PURA, PUS1, PYGM, PYROXD1, RAPSN, RBCK1, RILPL1, RNASEH1, RPH3A, RRM2B, RXYLT1, RYR1, RYR3, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC12A3, SLC16A1, SLC18A3, SLC22A5, SLC25A1, SLC25A20, SLC25A3, SLC25A32, SLC25A4, SLC25A42, SLC5A7, SMCHD1, SNAP25, SPEG, SPTBN4, STAC3, STIM1, SUCLA2, SVIL, SYNE1, SYNE2, SYT2, TAFAZZIN, TANGO2, TCAP, TK2, TMEM43, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIM54, TRIM63, TRIP4, TRMT5, TSFM, TTN, TYMP, UNC13A, UNC45B, VAMP1, VCP, VMA21, YARS2

          Muscular Dystrophies Panel
          Catégorie :
          Neurogenetics
          Sub Category:
          Neuromuscular Disease
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Muscular Dystrophies Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:
          Muscular Dystrophies, Congenital Muscular Dystrophy (CMD), Limb-girdle Muscular Dystrophy (LGMD), Emery-Dreifuss muscular dystrophy (also called scapulo-peroneal), dystrophinopathy (Duchene Muscular Dystrophy and Becker Muscular Dystrophy), Oculopharyngodistal myopathy, Facioscapulohumeral muscular dystrophy (FSHD), and myotonic dystrophy
          Rechercher:
          ACADVL, ANO5, ATP2A1, BAG3, BVES, CAPN3, CAV3, CAVIN1, COL6A1, COL6A2, COL6A3, CPT2, CRPPA, CRYAB, DAG1, DES, DMD, DNAJB6, DNMT3B, DOK7, DPM3, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GGPS1, GMPPB, GNE, GOSR2, HNRNPDL, JAG2, KBTBD13, LAMA2, LAMP2, LARGE1, LIMS2, LMNA, LPIN1, LRIF1, MTM1, MYH7, MYOT, ORAI1, PFKM, PHKA1, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PYGM, PYROXD1, RYR1, SELENON, SGCA, SGCB, SGCD, SGCG, SMCHD1, STIM1, SYNE1, SYNE2, TAFAZZIN, TCAP, TK2, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN, VCP, VMA21

          Myotonic dystrophy type 1
          Catégorie :
          Neurogenetics
          Sub Category:
          Myotonic dystrophy type 1
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Myotonic dystrophy type 1
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Steinert disease
          Rechercher:
          DMPK

          Myotonic dystrophy type 2
          Catégorie :
          Neurogenetics
          Sub Category:
          Myotonic dystrophy type 2
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Myotonic dystrophy type 2
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Proximal Myotonic Myopathy (PROMM)
          Rechercher:
          CNBP

          Neurofibromatosis, Type 1 (NF1)
          Catégorie :
          Cancer
          Sub Category:
          Neurofibromatosis type 1
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          University Health Network
          Rechercher:
          Neurofibromatosis, Type 1 (NF1)
          Rechercher:
          University Health Network
          Rechercher:
          Neurofibromatosis Type 1(NF1), Von Recklinghausen Disease, Legius Syndrome
          Rechercher:
          NF1

          Neurofibromatosis type 1
          Catégorie :
          Cancer
          Sub Category:
          Neurofibromatosis type 1
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Neurofibromatosis type 1
          Rechercher:
          North York General Hospital
          Rechercher:
          Neurofibromatosis type 1
          Rechercher:
          NF1

          Neurofibromatosis type 1
          Catégorie :
          Cancer
          Sub Category:
          Neurofibromatosis type 1
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Neurofibromatosis type 1
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Neurofibromatosis type 1
          Rechercher:
          NF1

          Neurofibromatosis type 1
          Catégorie :
          Cancer
          Sub Category:
          Neurofibromatosis type 1
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Neurofibromatosis type 1
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Neurofibromatosis type 1
          Rechercher:
          NF1

          Neurofibromatosis type 1
          Catégorie :
          Cancer
          Sub Category:
          Neurofibromatosis type 1
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Neurofibromatosis type 1
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Neurofibromatosis type 1
          Rechercher:
          NF1

          Neurofibromatosis type 1
          Catégorie :
          Cancer
          Sub Category:
          Neurofibromatosis type 1
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Neurofibromatosis type 1
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Neurofibromatosis type 1

          Rechercher:

          NF1

          Neurofibromatosis Type 1/Legius Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Neurofibromatosis type 1
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Neurofibromatosis Type 1/Legius Syndrome
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Neurofibromatosis Type 1(NF1), Von Recklinghausen Disease, Legius Syndrome
          Rechercher:
          NF1, SPRED1

          Neuromuscular Channelopathies Panel
          Catégorie :
          Neurogenetics
          Sub Category:
          Neuromuscular Disease
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Neuromuscular Channelopathies Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:
          Neuromuscular Channelopathies, myotonia congenita, paramyotonia congenita, hyperkalemic periodic paralysis, hypokalemic periodic paralysis, Andersen-Tawil syndrome, potassium-aggravated myotonia
          Rechercher:
          ATP1A2, CACNA1A, CACNA1S, CLCN1, KCNA1, KCNE3, KCNJ2, SCN4A, SLC12A3

          Neuromuscular Diseases Panel
          Catégorie :
          Neurogenetics
          Sub Category:
          Neuromuscular Disease
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Neuromuscular Diseases Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:
          Neuromuscular diseases
          Rechercher:
          AARS1, ABCA1, ABHD12, ABHD5, ACAD9, ACADL, ACADM, ACADVL, ACTA1, ACTN2, ACVR1, ADSS1, AGL, AGRN, AGTPBP1, AIFM1, ALDOA, ALG14, ALG2, ANO5, APTX, ARHGEF10, ARSA, ASAH1, ASCC1, ASCC3, ATL1, ATL3, ATM, ATP1A1, ATP1A2, ATP2A1, ATP5F1D, ATP7A, B3GALNT2, B4GALNT1, B4GAT1, BAG3, BCKDHB, BICD2, BIN1, BSCL2, BVES, C1QBP, CACNA1A, CACNA1H, CACNA1S, CADM3, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CCT5, CD59, CFAP276, CFL2, CHAT, CHCHD10, CHD8, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLCN1, CLN3, CLTCL1, CNTN1, CNTNAP1, COA7, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COX6A1, CPOX, CPT1A, CPT2, CRPPA, CRYAB, CTDP1, CYP27A1, DAG1, DARS2, DCAF8, DCTN1, DEGS1, DES, DGAT2, DGUOK, DHTKD1, DMD, DNAJB2, DNAJB4, DNAJB6, DNM2, DNMT1, DNMT3B, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DST, DYNC1H1, DYSF, ECEL1, EGR2, ELP1, EMD, ENO3, EPG5, ERCC6, ERCC8, ETFA, ETFB, ETFDH, EXOSC3, FAH, FBLN5, FBXO38, FDX2, FGD4, FHL1, FIG4, FKBP14, FKRP, FKTN, FLAD1, FLNC, FLVCR1, FXN, FXR1, GAA, GALC, GAN, GARS1, GATM, GBA2, GBE1, GBF1, GDAP1, GFPT1, GGPS1, GIPC1, GJB1, GJB3, GJC2, GLA, GMPPB, GNB4, GNE, GOLGA2, GOSR2, GYG1, GYS1, HACD1, HADHA, HADHB, HARS1, HINT1, HK1, HMBS, HNRNPA1, HNRNPA2B1, HNRNPDL, HOXD10, HRAS, HSPB1, HSPB3, HSPB8, HYCC1, IARS2, IGHMBP2, INF2, INPP5K, ISCU, ITGA7, ITPR3, JAG1, JAG2, KARS1, KBTBD13, KCNA1, KCNA2, KCNE3, KCNJ2, KIF1A, KIF1B, KIF5A, KLHL40, KLHL41, KY, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LIMS2, LITAF, LMNA, LMOD3, LPIN1, LRIF1, LRP12, LRP4, LRSAM1, LYST, MAP3K20, MARS1, MB, MCM3AP, MCOLN1, MEGF10, MFN2, MGME1, MICU1, MLIP, MMACHC, MME, MORC2, MPDU1, MPV17, MPZ, MSTN, MSTO1, MT-ATP6, MTM1, MTMR2, MTRFR, MT-RNR1, MT-TL1, MTTP, MUSK, MYBPC1, MYBPC3, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOT, MYPN, NAGA, NAGLU, NARS1, NDRG1, NEB, NEFH, NEFL, NGF, NHERF1, NMNAT2, NTRK1, OPA1, OPA3, ORAI1, PABPN1, PAX7, PCK2, PDHA1, PDK3, PDSS1, PDSS2, PEX10, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHYH, PIEZO2, PLEC, PLEKHG5, PMM2, PMP2, PMP22, PNKP, PNPLA2, PNPLA8, POGLUT1, POLG, POLG2, POLR3A, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PPOX, PRDM12, PREPL, PRKAG2, PRNP, PRPS1, PRX, PTPN11, PURA, PUS1, PYGM, PYROXD1, RAB7A, RAPSN, RBCK1, REEP1, RETREG1, RFC1, RILPL1, RNASEH1, RPH3A, RRM2B, RXYLT1, RYR1, RYR3, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN4A, SCN9A, SCO2, SELENON, SEPTIN9, SETX, SGCA, SGCB, SGCD, SGCG, SGPL1, SH3TC2, SIGMAR1, SIL1, SLC12A3, SLC12A6, SLC16A1, SLC18A3, SLC22A5, SLC25A1, SLC25A19, SLC25A20, SLC25A3, SLC25A32, SLC25A4, SLC25A42, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMCHD1, SMN1, SNAP25, SORD, SOX10, SPAST, SPEG, SPG11, SPTBN4, SPTLC1, SPTLC2, STAC3, STIM1, SUCLA2, SURF1, SVIL, SYNE1, SYNE2, SYT2, TAFAZZIN, TANGO2, TCAP, TFG, TK2, TMEM43, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM2, TRIM32, TRIM54, TRIM63, TRIP4, TRMT5, TRPA1, TRPV4, TSFM, TTN, TTPA, TTR, TUBB3, TYMP, UBA1, UNC13A, UNC45B, VAMP1, VAPB, VCP, VMA21, VPS13A, VRK1, VWA1, WARS1, WNK1, XK, XPA, YARS1, YARS2, ZFHX2, ZFYVE26

          Neuropathies Panel
          Catégorie :
          Neurogenetics
          Sub Category:
          Neuromuscular Disease
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Neuropathies Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:
          Neuropathies , Non-5q spinal muscular atrophy
          Rechercher:
          AARS1, ABCA1, ABHD12, AGTPBP1, AIFM1, APTX, ARHGEF10, ARSA, ASAH1, ASCC1, ATL1, ATL3, ATM, ATP1A1, ATP7A, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, CADM3, CCT5, CD59, CFAP276, CHCHD10, CLTCL1, CNTNAP1, COA7, COX6A1, CPOX, CTDP1, CYP27A1, DARS2, DCAF8, DCTN1, DEGS1, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, ELP1, ERCC6, ERCC8, EXOSC3, FAH, FBLN5, FBXO38, FGD4, FIG4, FLVCR1, FXN, GALC, GAN, GARS1, GBA2, GBF1, GDAP1, GJB1, GJB3, GJC2, GLA, GNB4, HADHA, HADHB, HARS1, HINT1, HK1, HMBS, HOXD10, HSPB1, HSPB3, HSPB8, HYCC1, IARS2, IGHMBP2, INF2, ITPR3, JAG1, KARS1, KCNA2, KIF1A, KIF1B, KIF5A, LAMP2, LDB3, LITAF, LMNA, LRSAM1, LYST, MARS1, MCM3AP, MEGF10, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MT-ATP6, MTMR2, MTRFR, MT-RNR1, MT-TL1, MTTP, NAGA, NAGLU, NARS1, NDRG1, NEFH, NEFL, NGF, NHERF1, NMNAT2, NTRK1, OPA1, OPA3, PCK2, PDHA1, PDK3, PEX10, PEX7, PHYH, PLEKHG5, PMM2, PMP2, PMP22, PNKP, POLG, POLR3A, PPOX, PRDM12, PRNP, PRPS1, PRX, PTPN11, RAB7A, REEP1, RETREG1, RFC1, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SCO2, SEPTIN9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SORD, SOX10, SPAST, SPG11, SPTBN4, SPTLC1, SPTLC2, SURF1, SYT2, TFG, TRIM2, TRIP4, TRPA1, TRPV4, TTPA, TTR, TUBB3, TYMP, UBA1, VAPB, VCP, VPS13A, VRK1, VWA1, WARS1, WNK1, XK, XPA, YARS1, ZFHX2, ZFYVE26

          Nevoid Basal Cell Carcinoma/ Gorlin Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Nevoid Basal Cell Carcinoma/ Gorlin Syndrome
          Rechercher:
          University Health Network
          Rechercher:
          Nevoid Basal Cell Carcinoma Syndrome/ Gorlin Syndrome
          Rechercher:
          PTCH1, SUFU

          Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Nevoid Basal Cell Carcinoma Syndrome/ Gorlin Syndrome
          Rechercher:
          PTCH1, SUFU

          Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Nevoid Basal Cell Carcinoma Syndrome/ Gorlin Syndrome
          Rechercher:
          PTCH1, SUFU

          Nevoid Basal Cell Carcinoma Syndrome/ Gorlin Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Nevoid Basal Cell Carcinoma Syndrome/ Gorlin Syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Nevoid Basal Cell Carcinoma Syndrome/ Gorlin Syndrome
          Rechercher:
          PTCH1, SUFU

          Niemann-Pick Disease
          Catégorie :
          Metabolic
          Sub Category:
          Niemann-Pick Disease
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Niemann-Pick Disease
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Niemann-Pick Disease

          Rechercher:

          NPC1, NPC2

          Nijmegen Breakage Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Nijmegen Breakage Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Nijmegen Breakage Syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Nijmegen Breakage Syndrome
          Rechercher:
          NBN

          Nijmegen Breakage Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Nijmegen Breakage Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Nijmegen Breakage Syndrome
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Nijmegen Breakage Syndrome
          Rechercher:
          NBN

          Nijmegen Breakage Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Nijmegen Breakage Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Nijmegen Breakage Syndrome
          Rechercher:
          North York General Hospital
          Rechercher:
          Nijmegen Breakage Syndrome
          Rechercher:
          NBN

          Nijmegen Breakage Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Nijmegen Breakage Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Nijmegen Breakage Syndrome
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Nijmegen Breakage Syndrome
          Rechercher:
          NBN

          Nijmegen Breakage Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Nijmegen Breakage Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Nijmegen Breakage Syndrome
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Nijmegen Breakage Syndrome

          Rechercher:

          NBN

          Nijmegen Breakage syndrome (NBN)
          Catégorie :
          Cancer
          Sub Category:
          Nijmegen Breakage syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          University Health Network
          Rechercher:
          Nijmegen Breakage syndrome (NBN)
          Rechercher:
          University Health Network
          Rechercher:
          Nijmegen Breakage syndrome
          Rechercher:
          NBN

          Non-Syndromic Recessive Deafness
          Catégorie :
          Audiology
          Sub Category:
          Non-Syndromic Hearing Loss
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Non-Syndromic Recessive Deafness
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Congenital Deafness , GJB2/ GJB6

          Rechercher:

          GJB2, GJB6

          Noonan Syndrome and RASopathies
          Catégorie :
          Cardiogenetics, Immunity, Multiple Congenital Anomalies
          Sub Category:
          Noonan Syndrome and RASopathies
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Noonan Syndrome and RASopathies
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Noonan syndrome, Noonan-like  syndrome, Costello syndrome, CFC syndrome, LEOPARD syndrome, Legius syndrome
          Rechercher:
          BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2, SPRED1 (Dosage ONLY)

          Oculopharyngeal muscular dystrophy
          Catégorie :
          Neurogenetics
          Sub Category:
          Oculopharyngeal muscular dystrophy (OPMD)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Oculopharyngeal muscular dystrophy
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Oculopharyngeal muscular dystrophy (OPMD)
          Rechercher:
          PABPN1

          Oculopharyngeal muscular dystrophy (OPMD)
          Catégorie :
          Neurogenetics
          Sub Category:
          Oculopharyngeal muscular dystrophy (OPMD)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Oculopharyngeal muscular dystrophy (OPMD)
          Rechercher:
          North York General Hospital
          Rechercher:
          Oculopharyngeal muscular dystrophy (OPMD)
          Rechercher:
          PABPN1 (GCN repeats)

          Ornithine transcarbamylase deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Ornithine transcarbamylase deficiency
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Ornithine transcarbamylase deficiency
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Ornithine transcarbamylase deficiency, Ornithine Carbamoyltransferase Deficiency, OTC Deficiency

          Rechercher:

          OTC

          Pancreatic Adenocarcinoma
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Pancreatic Cancer (Adenocarcinoma)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Pancreatic Adenocarcinoma
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Pancreatic Cancer, Adenocarcinoma
          Rechercher:
          ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53

          Pancreatic Adenocarcinoma
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Pancreatic Cancer (Adenocarcinoma)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Pancreatic Adenocarcinoma
          Rechercher:
          North York General Hospital
          Rechercher:
          Pancreatic Cancer, Adenocarcinoma
          Rechercher:
          ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53

          Pediatric Cardiomyopathy and Arrythmia Panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Cardiomyopathy and Arrhythmia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Pediatric Cardiomyopathy and Arrythmia Panel
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Cardiomyopathy and Arrhythmia
          Rechercher:
          ABCC9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, BAG3, BRAF, CACNA1C, CALM1, CALM2, CALM3, CASQ2, CAV3, CBL, CPT2, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HADHA, HADHB, HCN4, HRAS, JPH2, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MAP3K8, MIB1, MRAS, MTO1, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NF1, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPA2, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS, RRAS2, RYR2, SCN5A, SGCD, SHOC2, SLC22A5, SLC25A20, SLC25A4, SLC4A3, SOS1, SOS2, SPRED2, TAB2, TAFAZZIN, TBX20, TBX5, TCAP, TECRL, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, VCL

          Pediatric Cardiomyopathy and Arrythmia Panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Cardiomyopathy and Arrhythmia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Pediatric Cardiomyopathy and Arrythmia Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Cardiomyopathy and Arrhythmia
          Rechercher:
          ABCC9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, BAG3, BRAF, CACNA1C, CALM1, CALM2, CALM3, CASQ2, CAV3, CBL, CPT2, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HADHA, HADHB, HCN4, HRAS, JPH2, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MAP3K8, MIB1, MRAS, MTO1, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NF1, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPA2, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS, RRAS2, RYR2, SCN5A, SGCD, SHOC2, SLC22A5, SLC25A20, SLC25A4, SLC4A3, SOS1, SOS2, SPRED2, TAB2, TAFAZZIN, TBX20, TBX5, TCAP, TECRL, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, VCL

          Pediatric Cardiomyopathy panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Cardiomyopathy
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Pediatric Cardiomyopathy panel
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Cardiomyopathy
          Rechercher:
          ABCC9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, BAG3, BRAF, CACNA1C, CAV3, CBL, CPT2, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HADHA, HADHB, HCN4, HRAS, JPH2, JUP, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MAP3K8, MIB1, MRAS, MTO1, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NF1, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPA2, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS, RRAS2, RYR2, SCN5A, SGCD, SHOC2, SLC22A5, SLC25A20, SLC25A4, SOS1, SOS2, SPRED2, TAB2, TAFAZZIN, TBX20, TBX5, TCAP, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM63, TTN, TTR, VCL

          Pediatric Cardiomyopathy Panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Cardiomyopathy
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Pediatric Cardiomyopathy Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Cardiomyopathy
          Rechercher:
          ABCC9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, BAG3, BRAF, CACNA1C, CAV3, CBL, CPT2, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HADHA, HADHB, HCN4, HRAS, JPH2, JUP, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MAP3K8, MIB1, MRAS, MTO1, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NF1, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPA2, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS, RRAS2, RYR2, SCN5A, SGCD, SHOC2, SLC22A5, SLC25A20, SLC25A4, SOS1, SOS2, SPRED2, TAB2, TAFAZZIN, TBX20, TBX5, TCAP, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM63, TTN, TTR, VCL

          Pediatric Hypertrophic Cardiomyopathy Panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Hypertrophic Cardiomyopathy
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Pediatric Hypertrophic Cardiomyopathy Panel
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Hypertrophic Cardiomyopathy
          Rechercher:
          ABCC9, ACTC1, ACTN2, AGL, ALPK3, BRAF, CACNA1C, CBL, CSRP3, DES, FHL1, FHOD3, FLNC, GAA, GLA, HRAS, JPH2, KLHL24, KRAS, LAMP2, LZTR1, MAP2K1, MAP2K2, MAP3K8, MRAS, MTO1, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NF1, NRAS, PLN, PPP1CB, PRKAG2, PTPN11, RAF1, RIT1, RRAS, RRAS2, SHOC2, SLC22A5, SLC25A4, SOS1, SOS2, SPRED2, TAB2, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTR, VCL

          Pediatric Hypertrophic Cardiomyopathy Panel
          Catégorie :
          Cardiogenetics
          Sub Category:
          Hypertrophic Cardiomyopathy
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Pediatric Hypertrophic Cardiomyopathy Panel
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Hypertrophic Cardiomyopathy
          Rechercher:
          ABCC9, ACTC1, ACTN2, AGL, ALPK3, BRAF, CACNA1C, CBL, CSRP3, DES, FHL1, FHOD3, FLNC, GAA, GLA, HRAS, JPH2, KLHL24, KRAS, LAMP2, LZTR1, MAP2K1, MAP2K2, MAP3K8, MRAS, MTO1, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NF1, NRAS, PLN, PPP1CB, PRKAG2, PTPN11, RAF1, RIT1, RRAS, RRAS2, SHOC2, SLC22A5, SLC25A4, SOS1, SOS2, SPRED2, TAB2, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTR, VCL

          Perinatal Chromosome Microarray
          Catégorie :
          Fertility\Reproductive, Limited Access
          Sub Category:
          Microduplication/deletion Syndrome- Perinatal
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Perinatal Chromosome Microarray
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:

          Chromosomes 1-22, X and Y

          Perinatal rapid aneuploidy testing
          Catégorie :
          Chromosomal Anomalies, Fertility\Reproductive
          Sub Category:
          Aneuploidy Studies- Perinatal
          Lab:
          Test type:
          Autre
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Perinatal rapid aneuploidy testing
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:

          Chromosomes 13, 15, 16, 18, 21, 22, X and Y

          Peutz-Jeghers Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Peutz-Jeghers Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Peutz-Jeghers Syndrome
          Rechercher:
          North York General Hospital
          Rechercher:
          Peutz-Jeghers Syndrome
          Rechercher:
          STK11

          Peutz-Jeghers Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Peutz-Jeghers Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          University Health Network
          Rechercher:
          Peutz-Jeghers Syndrome
          Rechercher:
          University Health Network
          Rechercher:
          Peutz-Jeghers Syndrome
          Rechercher:
          STK11

          Peutz-Jeghers Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Peutz-Jeghers Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Peutz-Jeghers Syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Peutz-Jeghers Syndrome
          Rechercher:
          STK11

          Peutz-Jeghers Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Peutz-Jeghers Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Peutz-Jeghers Syndrome
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Peutz-Jeghers Syndrome
          Rechercher:
          STK11

          Peutz-Jeghers Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Peutz-Jeghers Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Peutz-Jeghers Syndrome
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Peutz-Jeghers Syndrome
          Rechercher:
          STK11

          Peutz-Jeghers Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Peutz-Jeghers Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Peutz-Jeghers Syndrome
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Peutz-Jeghers Syndrome

          Rechercher:

          STK11

          Pharmacogenetic testing - DPYD
          Catégorie :
          Pharmacogenetics
          Sub Category:
          Dihydropyrimidine dehydrogenase deficiency (DPYD)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          University Health Network
          Rechercher:
          Pharmacogenetic testing - DPYD
          Rechercher:
          University Health Network
          Rechercher:
          Pharmagogenetics, Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidinuria, DPD deficiency, Familial pyrimidemia, Hereditary thymine-uraciluria, 5-fluorouracil toxicity
          Rechercher:
          DPYD

          Phenylketonuria
          Catégorie :
          Metabolic
          Sub Category:
          Amino Acid Disorders
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Phenylketonuria
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Phenylketonuria, DNAJC12 Deficiency, GTP Cyclohydrolase Deficiency, DOPA-Responsive Dystonia, PCBD1 Deficiency, PTS Deficiency, QDPR Deficiency, Sepiapterin Reductase Deficiency

          Phenylketonuria: Biopterin deficiencies
          Catégorie :
          Metabolic
          Sub Category:
          Amino Acid Disorders
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Phenylketonuria: Biopterin deficiencies
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Biopterin deficiencies
          Rechercher:
          DNAJC12, GCH1, PCBD1, PTS, QDPR, SPR

          Phenylketonuria: PAH deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Amino Acid Disorders
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Phenylketonuria: PAH deficiency
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Phenylalanine hydroxylase (PAH) deficiency
          Rechercher:
          PAH

          PKD1 Deletion/Duplication only
          Catégorie :
          Renal
          Sub Category:
          Polycystic Kidney Disease
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          PKD1 Deletion/Duplication only
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Polycystic Kidney Disease Autosomal Dominant (ADPKD), adult polycystic kidney disease (APKD)
          Rechercher:
          PKD1

          PKD1 Sequencing only
          Catégorie :
          Renal
          Sub Category:
          Polycystic Kidney Disease
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          PKD1 Sequencing only
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Polycystic Kidney Disease Autosomal Dominant (ADPKD), adult polycystic kidney disease (APKD)
          Rechercher:
          PKD1

          PKD2 Deletion/Duplication only
          Catégorie :
          Renal
          Sub Category:
          Polycystic Kidney Disease
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          PKD2 Deletion/Duplication only
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Polycystic Kidney Disease Autosomal Dominant (ADPKD), adult polycystic kidney disease (APKD)
          Rechercher:
          PKD2

          PKD2 Sequencing only
          Catégorie :
          Renal
          Sub Category:
          Polycystic Kidney Disease
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          PKD2 Sequencing only
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Polycystic Kidney Disease Autosomal Dominant (ADPKD), adult polycystic kidney disease (APKD)
          Rechercher:
          PKD2

          PKD Full Analysis
          Catégorie :
          Renal
          Sub Category:
          Polycystic Kidney Disease
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          PKD Full Analysis
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Polycystic Kidney Disease Autosomal Dominant (ADPKD), Polycystic Kidney Disease Autosomal Recessive (ARPKD), adult polycystic kidney disease (APKD)
          Rechercher:
          PKD1, PKD2, PKHD1

          PKHD1 Deletion/Duplication only
          Catégorie :
          Renal
          Sub Category:
          Polycystic Kidney Disease
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          PKHD1 Deletion/Duplication only
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Polycystic Kidney Disease Autosomal Recessive (ARPKD), adult polycystic kidney disease (APKD)
          Rechercher:
          PKHD1

          PKHD1 Sequencing only
          Catégorie :
          Renal
          Sub Category:
          Polycystic Kidney Disease
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          PKHD1 Sequencing only
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Polycystic Kidney Disease Autosomal Recessive (ARPKD), adult polycystic kidney disease (APKD)
          Rechercher:
          PKHD1

          Polyposis
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Polyposis Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Polyposis
          Rechercher:
          North York General Hospital
          Rechercher:
          hereditary colorectal cancer, colon cancer
          Rechercher:
          APC, BMPR1A, EPCAM, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53

          Polyposis
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Polyposis Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Polyposis
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Hereditary Colorectal Cancer, Colon Cancer
          Rechercher:
          BMPR1A, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, STK11, TP53, APC

          Polyposis
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Polyposis Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Polyposis
          Rechercher:
          University Health Network
          Rechercher:
          Hereditary Colorectal Cancer, Colon Cancer
          Rechercher:
          BMPR1A, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, STK11, TP53, APC

          Postnatal chromosome microarray
          Catégorie :
          Chromosomal Anomalies, Neurodevelopmental
          Sub Category:
          Microarray: Microduplication/deletion Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Postnatal chromosome microarray
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:

          Chromosomes 1-22, X and Y

          Postnatal rapid aneuploidy testing
          Catégorie :
          Chromosomal Anomalies, Fertility\Reproductive
          Sub Category:
          Aneuploidy Studies
          Lab:
          Test type:
          Autre
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Postnatal rapid aneuploidy testing
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:

          Chromosomes 13, 18, 21, X and Y

          Prader Willi syndrome
          Catégorie :
          Neurodevelopmental
          Sub Category:
          Prader Willi syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Prader Willi syndrome
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Prader Willi syndrome (PWS), HHHO (hypogonadism, hypotonia, hypomentia, obesity), Prader-Labhart-Willi syndrome
          Rechercher:
          15q11-q13

          Prader-Willi Syndrome
          Catégorie :
          Neurodevelopmental
          Sub Category:
          Prader Willi syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Prader-Willi Syndrome
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Prader Willi syndrome
          Rechercher:
          SNRPN

          Prader-Willi Syndrome - UPD
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          Uniparental Disomy: Angelman Syndrome/Prader Willi Syndrome
          Lab:
          Test type:
          Cytogenetic, Autre
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Prader-Willi Syndrome - UPD
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          UPD15, Prader Willi Syndrome

          Rechercher:

          Chromosome 15, SNRPN

          Prenatal chromosome microarray
          Catégorie :
          Chromosomal Anomalies, Fertility\Reproductive
          Sub Category:
          Microduplication/deletion Syndrome- Prenatal
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Prenatal chromosome microarray
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:

          Chromosomes 1-22, X and Y

          Prenatal rapid aneuploidy testing
          Catégorie :
          Chromosomal Anomalies, Fertility\Reproductive
          Sub Category:
          Aneuploidy Studies- Prenatal
          Lab:
          Test type:
          Autre
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Prenatal rapid aneuploidy testing
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:

          Chromosomes 13, 18, 21, X and Y

          Primary immune deficiencies
          Catégorie :
          Immunity
          Sub Category:
          Primary immune deficiencies
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Primary immune deficiencies
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Primary immune deficiencies
          Rechercher:
          ACD, ACP5, ADA, ADA2, ADAM17, ADAR, AICDA, AIRE, AK2, AP3B1, ARHGEF1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BTK, C1QA, C1QB, C1QC, C1S, C2, C3, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD70, CD79A, CD79B, CD81, CD8A, CDCA7, CFD, CFI, CFP, CHD7, CIITA, COPA, CR2, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, CYBC1, DBR1, DCLRE1C, DKC1, DNASE2, DNMT3B, DOCK2, DOCK8, EBF1, EPG5, ERCC6L2, EXTL3, FADD, FAS, FASLG, FCHO1, FERMT3, FOXN1, FOXP3, G6PD, GATA2, GFI1, GINS1, HELLS, ICOS, IFIH1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6ST, IL7R, IRAK4, IRF2BP2, IRF8, ISG15, ITGB2, ITK, JAK1, JAK3, KRAS, LAMTOR2, LAT, LCK, LIG1, LIG4, LRBA, LRRC8A, LYST, MAGT1, MALT1, MAP3K14, MEFV, MRTFA, MOGS, MSN, MTHFD1, MVK, MYD88, MYO5A, NBN, NCF2, NCF4, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NOP10, NRAS, NSMCE3, ORAI1, OTULIN, PARN, PEPD, PGM3, PIK3CD, PIK3R1, PLCG2, PMS2, PNP, POLD1, POLE, POLE2, PRF1, PRKCD, PRKDC, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RASGRP1, RBCK1, RELA, RELB, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RORC, RTEL1, SAMHD1, SBDS, SEMA3E, SERPING1, SH2D1A, SLC29A3, SLC35C1, SLC39A7, SLC7A7, SMARCAL1, SP110, SPINK5, SPPL2A, STAT1, STAT2, STAT3, STIM1, STING1, STK4, STX11, STXBP2, TAP1, TAP2, TAPBP, TCF3, TCN2, TERC, TERT, TFRC, TGFB1, TINF2, TMC6, TMC8, TNFAIP3, TNFRSF13B, TNFRSF1A, TNFRSF4, TNFRSF9, TRAC, TRAF3IP2, TREX1, TRNT1, TTC37, TTC7A, TYK2, UNC13D, UNC93B1, UNG, USP18, WAS, WDR1, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24, ZNF341

          Progressive external ophthalmoplegia (PEO) and Optic atrophy
          Catégorie :
          Mitochondrial
          Sub Category:
          Mitochondrial nuclear gene
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Progressive external ophthalmoplegia (PEO) and Optic atrophy
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Progressive external ophthalmoplegia (PEO), Optic-nerve degeneration, Optic Atrophy
          Rechercher:
          ACO2, AFG3L2, ALG3, ANTXR1, ATP1A3, AUH, C19orf12, C1QBP, CCDC88A, CISD2, CLN3, DGUOK, DNA2, DNAJC19, DNAJC30, DNM1L, DNMT1, FA2H, FDX2, FDXR, FH, GYG2, IBA57, ISCA2, KIF21A, KLC2, MECR, MFF, MFN2, MGME1, MICOS13, MTFMT, MTO1, MTPAP, MTRFR, NARS2, NDUFAF3, NDUFS1, NR2F1, OPA1, OPA3, PANK2, PDHX, PDSS1, PHOX2A, PLA2G6, PLP1, POLG, POLG2, PRPS1, RNASEH1, ROBO3, RRM2B, RTN4IP1, SLC19A2, SLC19A3, SLC25A4, SLC25A46, SLC52A2, SLC52A3, SNX10, SPG7, SUCLA2, TACO1, TCIRG1, TIMM8A, TK2, TMEM126A, TSFM, TUBB3, TUBB4A, TWNK, TYMP, UCHL1, WDR73, WFS1, YME1L1

          Progressive Myoclonic Epilepsy Panel
          Catégorie :
          Neurogenetics
          Sub Category:
          Progressive Myoclonic Epilepsy
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Progressive Myoclonic Epilepsy Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Epilepsy

          Rechercher:

          ASAH1, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, EPM2A, GOSR2, GRN, KCNC1, KCTD7, MFSD8, NEU1, NHLRC1, PPT1, SCARB2, SERPINI1, SGCE, TPP1

          Propionic / Methylmalonic acidemias
          Catégorie :
          Metabolic
          Sub Category:
          Fatty Acid Oxidation Diseases
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Propionic / Methylmalonic acidemias
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Propionic acidemia, propionyl-CoA carboxylase deficiency, homocysteinemia, Methylmalonic acidemia, MMA, Isolated Methylmalonic Aciduria
          Rechercher:
          ABCD4, ACSF3, ALDH6A1, AMN, CBLIF, CD320, CUBN, HCFC1, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, PCCA, PCCB, SUCLA2, SUCLG1, TCN1, TCN2

          Propionic / Methylmalonic acidemias: Isolated MMA
          Catégorie :
          Metabolic
          Sub Category:
          Fatty Acid Oxidation Diseases
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Propionic / Methylmalonic acidemias: Isolated MMA
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Isolated Methylmalonic Aciduria
          Rechercher:
          ACSF3, ALDH6A1, MCEE, MLYCD, MMAA, MMAB, MMUT, SUCLA2, SUCLG1

          Propionic / Methylmalonic acidemias: MMA and homocysteinemia
          Catégorie :
          Metabolic
          Sub Category:
          Fatty Acid Oxidation Diseases
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Propionic / Methylmalonic acidemias: MMA and homocysteinemia
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          homocysteinemia, Methylmalonic acidemia, MMA
          Rechercher:
          ABCD4, AMN, CBLIF, CD320, CUBN, HCFC1, LMBRD1, MMACHC, MMADHC, TCN1, TCN2

          Prothrombin Gene 20210A Mutation
          Catégorie :
          Hematology
          Sub Category:
          Thrombophilia (Factor II Prothrombin)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          North York General Hospital
          Rechercher:
          Prothrombin Gene 20210A Mutation
          Rechercher:
          North York General Hospital
          Rechercher:

          Prothrombin Thrombophilia, Hyperprothrombinemia, Prothrombin G20210A thrombophilia, Factor II-related thrombophilia, Thrombophilia due to factor 2 defect, F2-Related Thrombophilia, Prothrombin thrombophilia

          Rechercher:

          F2 (c.*97G>A)

          Prothrombin Gene Mutation
          Catégorie :
          Hematology
          Sub Category:
          Thrombophilia (Factor II Prothrombin)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Prothrombin Gene Mutation
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:

          PGM

          Prothrombin Mutation G20210A
          Catégorie :
          Hematology
          Sub Category:
          Thrombophilia (Factor II Prothrombin)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          St. Michael’s Hospital
          Rechercher:
          Prothrombin Mutation G20210A
          Rechercher:
          St. Michael’s Hospital
          Rechercher:

          Prothrombin Thrombophilia, Hyperprothrombinemia, Prothrombin G20210A thrombophilia, Factor II-related thrombophilia, Thrombophilia due to factor 2 defect, F2-Related Thrombophilia, Prothrombin thrombophilia

          Rechercher:

          F2

          Prothrombin Thrombophilia
          Catégorie :
          Hematology
          Sub Category:
          Thrombophilia (Factor II Prothrombin)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Prothrombin Thrombophilia
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Prothrombin Thrombophilia, Hyperprothrombinemia, Prothrombin G20210A thrombophilia, Factor II-related thrombophilia, Thrombophilia due to factor 2 defect, F2-Related Thrombophilia, Prothrombin thrombophilia

          Rechercher:

          F2

          PTEN Hamartoma Tumour Syndrome
          Catégorie :
          Cancer
          Sub Category:
          PTEN Hamartoma Tumour Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          PTEN Hamartoma Tumour Syndrome
          Rechercher:
          North York General Hospital
          Rechercher:
          PTEN Hamartoma Tumour Syndrome
          Rechercher:
          PTEN

          PTEN Hamartoma Tumour Syndrome
          Catégorie :
          Cancer
          Sub Category:
          PTEN Hamartoma Tumour Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          PTEN Hamartoma Tumour Syndrome
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          PTEN Hamartoma Tumour Syndrome
          Rechercher:
          PTEN

          PTEN Hamartoma Tumour Syndrome
          Catégorie :
          Cancer
          Sub Category:
          PTEN Hamartoma Tumour Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          University Health Network
          Rechercher:
          PTEN Hamartoma Tumour Syndrome
          Rechercher:
          University Health Network
          Rechercher:
          PTEN Hamartoma Tumour Syndrome, Cowden syndrome, Bannayan-Zonana syndrome, Bannayan-Riley-Ruvalcaba syndrome
          Rechercher:
          PTEN

          PTEN Hamartoma Tumour Syndrome
          Catégorie :
          Cancer
          Sub Category:
          PTEN Hamartoma Tumour Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          PTEN Hamartoma Tumour Syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:
          PTEN Hamartoma Tumour Syndrome
          Rechercher:
          PTEN

          PTEN Hamartoma Tumour Syndrome
          Catégorie :
          Cancer
          Sub Category:
          PTEN Hamartoma Tumour Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          PTEN Hamartoma Tumour Syndrome
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          PTEN Hamartoma Tumour Syndrome

          Rechercher:

          PTEN

          Pyruvate dehydrogenase complex deficiency
          Catégorie :
          Mitochondrial
          Sub Category:
          Mitochondrial nuclear gene
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Pyruvate dehydrogenase complex deficiency
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, PDH E2 Deficiency, DLD Deficiency, Hyperglycinemia-lactic acidosis-seizures, Lipoyltransferase Deficiency, Multiple Mitochondrial Dysfunctions Syndrome 1, Pyruvate Carboxylase, Pyruvate Dehydrogenase Deficiency, PDHE1-alpha, PDHE1-beta, PDH-X, CMT X-linked Type 6, PDH Phosphatase Deficiency, Thiamine-Responsive Megaloblastic Anemia, Thiamine Metabolism Dysfunction Syndrome 5
          Rechercher:
          BOLA3, DLAT, DLD, LIAS, LIPT1, LIPT2, NFU1, PC, PDHA1, PDHB, PDHX, PDK3, PDP1, SLC19A2, SLC19A3, TPK1

          Rapid Aneuploidy Detection
          Catégorie :
          Chromosomal Anomalies, Fertility\Reproductive
          Sub Category:
          Aneuploidy Studies
          Lab:
          Test type:
          Autre
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Rapid Aneuploidy Detection
          Rechercher:
          Mount Sinai Hospital
          Rechercher:

          Chromosomes 13, 18, 21, X and Y

          Rapid Aneuploidy Detection
          Catégorie :
          Chromosomal Anomalies, Fertility\Reproductive
          Sub Category:
          Aneuploidy Studies
          Lab:
          Test type:
          Autre
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Rapid Aneuploidy Detection
          Rechercher:
          Kingston General Hospital
          Rechercher:

          Aneuploidy for chromosomes 13, 15, 16, 18, 21, 22, X and Y

          Rechercher:

          Chromosomes 13, 15, 16 ,18, 21, 22, X and Y

          Rapid Aneuploidy Detection
          Catégorie :
          Chromosomal Anomalies, Fertility\Reproductive
          Sub Category:
          Aneuploidy Studies
          Lab:
          Test type:
          Autre
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Rapid Aneuploidy Detection
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Rapid Aneuploidy detection of Chromosome 13, 18, 21, X & Y, RAD

          Rechercher:

          Chromosomes 13, 18, 21, X and Y

          Rapid Aneuploidy Detection (RAD)
          Catégorie :
          Chromosomal Anomalies, Fertility\Reproductive, Multiple Congenital Anomalies
          Sub Category:
          Aneuploidy Studies
          Lab:
          Test type:
          Autre
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Rapid Aneuploidy Detection (RAD)
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Prenatal, perinatal, postnatal aneuploidy

          Rechercher:

          Chromosomes 13, 18, 21, X and Y

          Rapid FISH: Ambiguous genitalia
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Disorders of Sex Development
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Rapid FISH: Ambiguous genitalia
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Disorders of sex development

          Rechercher:

          CEPX/CEPY (centromere X/centromere Y)

          Rapid FISH: Bone Marrow Transplant
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          FISH: Bone Marrow Transplant
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Rapid FISH: Bone Marrow Transplant
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          BMT Monitoring (centromere X/centromere Y)

          Rechercher:

          BMT Monitoring

          Rapid FISH: Trisomy 13
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          Aneuploidy Studies
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Rapid FISH: Trisomy 13
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Trisomy 13, Patau Syndrome

          Rechercher:

          Trisomy 13 (FOXO1 (13q14))

          Rapid FISH: Trisomy 18
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          Aneuploidy Studies
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Rapid FISH: Trisomy 18
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Trisomy 18, Edward Syndrome

          Rechercher:

          Trisomy 18 (MALT1 (18q21))

          Rapid FISH: Trisomy 21
          Catégorie :
          Chromosomal Anomalies
          Sub Category:
          Aneuploidy Studies
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Rapid FISH: Trisomy 21
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Down syndrome, Trisomy 21

          Rechercher:

          Down syndrome (LSI21 (21q22))

          Rare Familial Mutations
          Catégorie :
          Genome-wide
          Sub Category:
          Known Familial Variant
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Rare Familial Mutations
          Rechercher:
          North York General Hospital
          Rechercher:
          personal and/or family history of hereditary cancer

          Rare Hereditary Polyposis Genes
          Catégorie :
          Cancer
          Sub Category:
          Rare Polyposis Genes
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Rare Hereditary Polyposis Genes
          Rechercher:
          Kingston General Hospital
          Rechercher:
          hereditary colorectal cancer, colon cancer
          Rechercher:
          GALNT12, RPS20

          Rare Polyposis
          Catégorie :
          Cancer
          Sub Category:
          Rare Polyposis Genes
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Rare Polyposis
          Rechercher:
          University Health Network
          Rechercher:
          Hereditary Colorectal Cancer, Colon Cancer
          Rechercher:
          GALNT12, RPS20

          Rare Polyposis
          Catégorie :
          Cancer
          Sub Category:
          Rare Polyposis Genes
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Rare Polyposis
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          hereditary colorectal cancer, colon cancer

          Rechercher:

          GALNT12, RPS20

          Rare Polyposis Genes
          Catégorie :
          Cancer
          Sub Category:
          Rare Polyposis Genes
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Rare Polyposis Genes
          Rechercher:
          North York General Hospital
          Rechercher:
          Rare Polyposis
          Rechercher:
          GALNT12, RPS20

          Rare Polyposis Genes
          Catégorie :
          Cancer
          Sub Category:
          Rare Polyposis Genes
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Rare Polyposis Genes
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Hereditary Colorectal Cancer, Colon Cancer
          Rechercher:
          GALNT12, RPS20

          Rare Polyposis Genes
          Catégorie :
          Cancer
          Sub Category:
          Rare Polyposis Genes
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Rare Polyposis Genes
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          hereditary colorectal cancer, colon cancer
          Rechercher:
          GALNT12, RPS20

          Renal Disease: atypical Hemolytic Uremic Syndrome / C3 glomerulonephritis (aHUS/C3G)
          Catégorie :
          Renal
          Sub Category:
          atypical Hemolytic Uremic Syndrome
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Renal Disease: atypical Hemolytic Uremic Syndrome / C3 glomerulonephritis (aHUS/C3G)
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          aHUS, Familial Hemolytic-Uremic Syndrome, Hereditary Hemolytic-Uremic Syndrome, MPGN; Mesangiocapillary glomerulonephritis
          Rechercher:
          C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, THBD

          Renal Disease: Focal Segmental Glomerulonephritis Syndrome (FSGS) and membranous nephropathies
          Catégorie :
          Renal
          Sub Category:
          Focal Segmental Glomerulonephritis Syndrome (FSGS)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Renal Disease: Focal Segmental Glomerulonephritis Syndrome (FSGS) and membranous nephropathies
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Congenital Nephrotic Syndrome; Congenital Finnish Nephosis, Focal Segmental Glomerulosclerosis
          Rechercher:
          ACTN4, ADCK4, CD2AP, COQ2, INF2, LAMB2, LMX1B, MYH9, NPHS1, NPHS2, PDSS2, PLCE1, SCARB2, SMARCAL1, TRPC6, WT1

          Retinoblastoma
          Catégorie :
          Cancer, Ophthalmology
          Sub Category:
          Retinoblastoma
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Retinoblastoma
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Retinoblastoma
          Rechercher:
          RB1

          Retinoblastoma
          Catégorie :
          Cancer, Ophthalmology
          Sub Category:
          Retinoblastoma
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Retinoblastoma
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Retinoblastoma
          Rechercher:
          RB1

          Retinoblastoma
          Catégorie :
          Cancer, Ophthalmology
          Sub Category:
          Retinoblastoma
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Retinoblastoma
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Retinoblastoma
          Rechercher:
          RB1

          Retinoblastoma
          Catégorie :
          Cancer
          Sub Category:
          Retinoblastoma
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          University Health Network
          Rechercher:
          Retinoblastoma
          Rechercher:
          University Health Network
          Rechercher:
          Retinoblastoma
          Rechercher:
          RB1

          Retinoblastoma
          Catégorie :
          Cancer, Ophthalmology
          Sub Category:
          Retinoblastoma
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Retinoblastoma
          Rechercher:
          North York General Hospital
          Rechercher:
          Retinoblastoma
          Rechercher:
          RB1

          Retinoblastoma
          Catégorie :
          Cancer, Ophthalmology
          Sub Category:
          Retinoblastoma
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Retinoblastoma
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Retinoblastoma

          Rechercher:

          RB1

          Rhabdoid Predisposition Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Rhabdoid Tumor Predisposition Syndrome (RTPS)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Rhabdoid Predisposition Syndrome
          Rechercher:
          University Health Network
          Rechercher:
          Rhabdoid Tumor Predisposition Syndrome (RTPS)
          Rechercher:
          SMARCA4, SMARCB1

          Rhabdoid Predisposition Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Rhabdoid Tumor Predisposition Syndrome (RTPS)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Rhabdoid Predisposition Syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Rhabdoid Tumor Predisposition Syndrome (RTPS)
          Rechercher:
          SMARCA4, SMARCB1

          Rhabdoid Predisposition Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Rhabdoid Tumor Predisposition Syndrome (RTPS)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Rhabdoid Predisposition Syndrome
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Rhabdoid Tumor Predisposition Syndrome (RTPS)
          Rechercher:
          SMARCA4, SMARCB1

          Rhabdoid Predisposition Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Rhabdoid Tumor Predisposition Syndrome (RTPS)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Rhabdoid Predisposition Syndrome
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Rhabdoid Tumor Predisposition Syndrome (RTPS)
          Rechercher:
          SMARCA4, SMARCB1

          Rhabdoid Predisposition Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Rhabdoid Tumor Predisposition Syndrome (RTPS)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Rhabdoid Predisposition Syndrome
          Rechercher:
          North York General Hospital
          Rechercher:
          Rhabdoid Tumor Predisposition Syndrome (RTPS)
          Rechercher:
          SMARCA4, SMARCB1

          Rhabdoid Tumor Predisposition Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Rhabdoid Tumor Predisposition Syndrome (RTPS)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Rhabdoid Tumor Predisposition Syndrome
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Rhabdoid Tumor Predisposition Syndrome (RTPS)

          Rechercher:

          SMARCA4, SMARCB1

          Rhabdoid Tumour Predisposition Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Rhabdoid Tumor Predisposition Syndrome (RTPS)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Rhabdoid Tumour Predisposition Syndrome
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Rhabdoid Tumor Predisposition Syndrome (RTPS)
          Rechercher:
          SMARCB1

          Rhabdomyolysis and Metabolic Myopathies Panel
          Catégorie :
          Neurogenetics
          Sub Category:
          Neuromuscular Disease
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Rhabdomyolysis and Metabolic Myopathies Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:
          Rhabdomyolysis, metabolic myopathies
          Rechercher:
          ABHD5, ACAD9, ACADL, ACADM, ACADVL, AGL, ALDOA, ANO5, ATP2A1, ATP5F1D, C1QBP, CACNA1S, CAPN3, CASQ1, CAV3, CHKB, CPT1A, CPT2, CRPPA, DAG1, DGUOK, DMD, DNAJB6, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FDX2, FHL1, FKRP, FKTN, FLAD1, GAA, GATM, GBE1, GMPPB, GYG1, GYS1, HADHA, HADHB, ISCU, ITGA7, LAMA2, LAMP2, LARGE1, LDHA, LPIN1, MGME1, MLIP, PDSS1, PDSS2, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PNPLA2, PNPLA8, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, RYR1, SCN4A, SGCA, SGCB, SGCD, SGCG, SIL1, SLC16A1, SLC22A5, SLC25A20, SLC25A3, SLC25A32, SLC25A4, SLC25A42, STAC3, SUCLA2, TAFAZZIN, TANGO2, TCAP, TK2, TNPO3, TRIM32, TRMT5, TSFM, TYMP, YARS2

          RNA sequencing of whole transcriptome
          Catégorie :
          Genome-wide
          Sub Category:
          Whole Transcriptome Sequencing
          Lab:
          Test type:
          Genome-wide
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          RNA sequencing of whole transcriptome
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          RNA sequencing of whole transcriptome

          Russell Silver Syndrome
          Catégorie :
          Skeletal\Growth
          Sub Category:
          Russell Silver Syndrome
          Lab:
          Test type:
          Cytogenetic, Targeted Variant
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Russell Silver Syndrome
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Silver-Russell Syndrome (RSS)

          Rechercher:

          H19 (IC1), Chromosome 7

          Schwannomatosis
          Catégorie :
          Cancer
          Sub Category:
          Schwannomatosis
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Schwannomatosis
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Schwannomatosis
          Rechercher:
          LZTR1, NF2, SMARCB1

          Schwannomatosis
          Catégorie :
          Cancer
          Sub Category:
          Schwannomatosis
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Schwannomatosis
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Schwannomatosis
          Rechercher:
          LZTR1, NF2, SMARCB1

          Schwannomatosis
          Catégorie :
          Cancer
          Sub Category:
          Schwannomatosis
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Schwannomatosis
          Rechercher:
          University Health Network
          Rechercher:
          Schwannomatosis, Neurofibromatosis Type 2
          Rechercher:
          LZTR1, NF2, SMARCB1

          Schwannomatosis
          Sub Category:
          Schwannomatosis
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Schwannomatosis
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Schwannomatosis
          Rechercher:
          LZTR1, NF2, SMARCB1

          Schwannomatosis
          Catégorie :
          Cancer
          Sub Category:
          Schwannomatosis
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Schwannomatosis
          Rechercher:
          North York General Hospital
          Rechercher:
          Schwannomatosis
          Rechercher:
          LZTR1, NF2, SMARCB1

          Schwannomatosis
          Catégorie :
          Cancer
          Sub Category:
          Schwannomatosis
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Schwannomatosis
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Schwannomatosis

          Rechercher:

          LZTR1, NF2, SMARCB1

          SCID ADA
          Catégorie :
          Immunity, Metabolic
          Sub Category:
          Primary immune deficiencies
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          SCID ADA
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Severe combined immunodeficiency- Adenosine deaminase deficiency, SCID-ADA
          Rechercher:
          ADA

          Sessile Serrated Polyposis Cancer Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Sessile Serrated Polyposis Cancer Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Sessile Serrated Polyposis Cancer Syndrome
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Sessile Serrated Polyposis Cancer Syndrome
          Rechercher:
          RNF43

          Sessile Serrated Polyposis Cancer Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Sessile Serrated Polyposis Cancer Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Sessile Serrated Polyposis Cancer Syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Sessile Serrated Polyposis Cancer Syndrome
          Rechercher:
          RNF43

          Sessile Serrated Polyposis Cancer Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Sessile Serrated Polyposis Cancer Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          University Health Network
          Rechercher:
          Sessile Serrated Polyposis Cancer Syndrome
          Rechercher:
          University Health Network
          Rechercher:
          Sessile Serrated Polyposis Cancer Syndrome
          Rechercher:
          RNF43

          Sessile Serrated Polyposis Cancer Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Sessile Serrated Polyposis Cancer Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Sessile Serrated Polyposis Cancer Syndrome
          Rechercher:
          North York General Hospital
          Rechercher:
          Sessile Serrated Polyposis Cancer Syndrome
          Rechercher:
          RNF43

          Sessile Serrated Polyposis Cancer Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Sessile Serrated Polyposis Cancer Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Sessile Serrated Polyposis Cancer Syndrome
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Sessile Serrated Polyposis Cancer Syndrome

          Rechercher:

          RNF43

          Sexing PCR
          Catégorie :
          Multipurpose
          Sub Category:
          Sexing PCR
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Sexing PCR
          Rechercher:
          Kingston General Hospital

          Shwachman-Diamond Syndrome
          Catégorie :
          Hematology
          Sub Category:
          Shwachman-Diamond Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Shwachman-Diamond Syndrome
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Shwachman-Diamond Syndrome
          Rechercher:
          SBDS

          Single Gene test: DPYD
          Catégorie :
          Pharmacogenetics
          Sub Category:
          Dihydropyrimidine dehydrogenase deficiency (DPYD)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Sunnybrook Health Sciences Centre
          Rechercher:
          Single Gene test: DPYD
          Rechercher:
          Sunnybrook Health Sciences Centre
          Rechercher:

          Pharmagogenetics, Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidinuria, DPD deficiency, Familial pyrimidemia, Hereditary thymine-uraciluria

          Rechercher:

          DPYD (c.1129-5923C>G), DPYD (c.1679T>G (p.I560S)), DPYD (c.1905+1G>A), DPYD (c.2846A>T (p.D949V)), DPYD (c.557A>G (p.Y186C))

          Single Gene test: Factor V Leiden
          Catégorie :
          Hematology, Limited Access
          Sub Category:
          Thrombophilia (Factor V Leiden)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Sunnybrook Health Sciences Centre
          Rechercher:
          Single Gene test: Factor V Leiden
          Rechercher:
          Sunnybrook Health Sciences Centre
          Rechercher:

          Factor V Leiden Thrombophilia, Hereditary Resistance to Activated Protein C

          Rechercher:

          F5 (c.1601G>A (p.R534Q))

          Single Gene test: HFE
          Catégorie :
          Hematology, Limited Access
          Sub Category:
          Hereditary Hemochromatosis
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Sunnybrook Health Sciences Centre
          Rechercher:
          Single Gene test: HFE
          Rechercher:
          Sunnybrook Health Sciences Centre
          Rechercher:

          Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

          Rechercher:

          HFE (c.845G>A (p.C282Y)), HFE:c.187C>G (p.H63D)

          Single Gene test: HLA-B*5701
          Catégorie :
          Pharmacogenetics
          Sub Category:
          Abacavir hypersensitivity
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Sunnybrook Health Sciences Centre
          Rechercher:
          Single Gene test: HLA-B*5701
          Rechercher:
          Sunnybrook Health Sciences Centre
          Rechercher:

          Abacavir hypersensitivity

          Rechercher:

          HLA-B (p.F116S), HLA-B (p.R97V), HLA-B (p.T143T)

          Single Gene test: MTHFR
          Catégorie :
          Hematology, Limited Access
          Sub Category:
          Thrombosis
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Sunnybrook Health Sciences Centre
          Rechercher:
          Single Gene test: MTHFR
          Rechercher:
          Sunnybrook Health Sciences Centre
          Rechercher:

          Homocystinuria, Hereditary Thrombosis

          Rechercher:

          MTHFR (c.665C>T (p.A222V))

          Single Gene test: Prothrombin 20210
          Catégorie :
          Hematology, Limited Access
          Sub Category:
          Thrombophilia (Factor II Prothrombin)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Sunnybrook Health Sciences Centre
          Rechercher:
          Single Gene test: Prothrombin 20210
          Rechercher:
          Sunnybrook Health Sciences Centre
          Rechercher:

          Prothrombin Thrombophilia, Hyperprothrombinemia, Prothrombin G20210A thrombophilia, Factor II-related thrombophilia, Thrombophilia due to factor 2 defect, F2-Related Thrombophilia, Prothrombin thrombophilia

          Rechercher:

          F2 (c.*97G>A (20210G>A))

          Single Gene test: TPMT
          Catégorie :
          Pharmacogenetics, Limited Access
          Sub Category:
          Thiopurine S-methyltransferase deficiency (TPMT)
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Sunnybrook Health Sciences Centre
          Rechercher:
          Single Gene test: TPMT
          Rechercher:
          Sunnybrook Health Sciences Centre
          Rechercher:

          Thiopurine S-methyltransferase deficiency

          Rechercher:

          TPMT (c.238G>C (p.Ala80Pro)), TPMT (c.460G>A (p.Ala154Thr)), TPMT (c.719A>G (p.Tyr240Cys))

          Single Gene tests (Hemoglobinopathies)
          Catégorie :
          Hematology
          Sub Category:
          Hemoglobin Diseases
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Single Gene tests (Hemoglobinopathies)
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:
          Thalassemia, Hemoglobin Variant, Sickle Cell Disease
          Rechercher:
          HBA1,HBA2,HBB,HBD,HBE,HBG1,HBG2,HBZ,KLF1

          Single Genetests (HFE)
          Catégorie :
          Hematology
          Sub Category:
          Hereditary Hemochromatosis
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Single Genetests (HFE)
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:

          Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

          Rechercher:

          HFE

          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Catégorie :
          Cancer
          Sub Category:
          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Rechercher:
          SMARCA4

          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Catégorie :
          Cancer
          Sub Category:
          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          University Health Network
          Rechercher:
          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Rechercher:
          University Health Network
          Rechercher:
          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Rechercher:
          SMARCA4

          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Catégorie :
          Cancer
          Sub Category:
          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Rechercher:
          SMARCA4

          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Catégorie :
          Cancer
          Sub Category:
          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Rechercher:
          SMARCA4

          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Catégorie :
          Cancer
          Sub Category:
          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Rechercher:
          North York General Hospital
          Rechercher:
          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Rechercher:
          SMARCA4

          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Catégorie :
          Cancer
          Sub Category:
          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)

          Rechercher:

          SMARCA4

          Smith-Lemli-Opitz Syndrome
          Catégorie :
          Metabolic
          Sub Category:
          Smith-Lemli-Opitz Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Smith-Lemli-Opitz Syndrome
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:
          Smith-Lemli-Opitz Syndrome (SLOS), RSH syndrome, Smith-Lemli-Opitz syndrome type II, 7-dehydrocholesterol reductase deficiency, DHCR7 abnormality
          Rechercher:
          DHCR7

          Soft Tissue Cancer Panel
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Soft Tissue Sarcomas
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Soft Tissue Cancer Panel
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Soft Tissue Carcinoma

          Rechercher:

          APC, ATM, BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, NF1, PMS2, TP53

          Soft Tissue Sarcoma
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Soft Tissue Sarcomas
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Soft Tissue Sarcoma
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Soft Tissue Sarcoma
          Rechercher:
          APC, ATM, BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, NF1, PMS2, TP53

          Soft Tissue Sarcoma
          Catégorie :
          Cancer
          Sub Category:
          Hereditary Soft Tissue Sarcomas
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Soft Tissue Sarcoma
          Rechercher:
          North York General Hospital
          Rechercher:
          Soft Tissue Sarcoma
          Rechercher:
          APC, ATM, BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, NF1, PMS2, TP53

          Spinal and bulbar muscular atrophy (AR gene)
          Catégorie :
          Neurogenetics
          Sub Category:
          Spinal and Bulbar Muscular Atrophy (SBMA)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Spinal and bulbar muscular atrophy (AR gene)
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Spinal and Bulbar Muscular Atrophy (SBMA), Kennedy's disease
          Rechercher:
          AR

          Spinal and Bulbar Muscular Atrophy (SBMA)
          Catégorie :
          Neurogenetics
          Sub Category:
          Spinal and Bulbar Muscular Atrophy (SBMA)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Spinal and Bulbar Muscular Atrophy (SBMA)
          Rechercher:
          North York General Hospital
          Rechercher:
          Spinal and Bulbar Muscular Atrophy (SBMA), Kennedy's disease
          Rechercher:
          AR (CAG repeats)

          Spinal muscular atrophy
          Catégorie :
          Neurogenetics
          Sub Category:
          Spinal muscular atrophy
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Spinal muscular atrophy
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Spinal muscular atrophy (SMA), SMA I (Werdnig-Hoffmann disease, acute SMA), SMA II (Chronic SMA, Dubowitz disease), SMA III (Kugelberg-Welander disease, juvenile SMA), SMA IV (adolescent-SMA, adult-onset SMA)
          Rechercher:
          SMN1, SMN2

          Spinal Muscular Atrophy
          Catégorie :
          Neurogenetics
          Sub Category:
          Spinal Muscular Atrophy
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Spinal Muscular Atrophy
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Spinal Muscular Atrophy
          Rechercher:
          SMN1, SMN2, SMNC, SMNT

          Spinocerebellar Ataxia panel (SCA)
          Catégorie :
          Neurogenetics
          Sub Category:
          Spinocerebellar Ataxia (SCA)
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Spinocerebellar Ataxia panel (SCA)
          Rechercher:
          North York General Hospital
          Rechercher:
          Spinocerebellar Ataxia (SCA)
          Rechercher:
          ATXN1 (CAG repeats), ATXN2 (CAG repeats), ATXN3 (CAG repeats), ATXN7 (CAG repeats), ATXN8OS (CTA-CTG repeats), CACNA1A (CAG repeats), TBP (CAA-CAG repeats)

          Spinocerebellar Ataxia type 1 (SCA1)
          Catégorie :
          Neurogenetics
          Sub Category:
          Spinocerebellar Ataxia (SCA)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Spinocerebellar Ataxia type 1 (SCA1)
          Rechercher:
          North York General Hospital
          Rechercher:
          Spinocerebellar ataxia type 1 (SCA1)
          Rechercher:
          ATXN1 (CAG repeats)

          Spinocerebellar Ataxia type 17 (SCA17)
          Catégorie :
          Neurogenetics
          Sub Category:
          Spinocerebellar Ataxia (SCA)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Spinocerebellar Ataxia type 17 (SCA17)
          Rechercher:
          North York General Hospital
          Rechercher:
          Spinocerebellar ataxia type 17 (SCA17)
          Rechercher:
          TBP (CAA-CAG repeats)

          Spinocerebellar Ataxia type 2 (SCA2)
          Catégorie :
          Neurogenetics
          Sub Category:
          Spinocerebellar Ataxia (SCA)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Spinocerebellar Ataxia type 2 (SCA2)
          Rechercher:
          North York General Hospital
          Rechercher:
          Spinocerebellar Ataxia type 2 (SCA2)
          Rechercher:
          ATXN2 (CAG repeats)

          Spinocerebellar Ataxia type 3 (SCA3)
          Catégorie :
          Neurogenetics
          Sub Category:
          Spinocerebellar Ataxia (SCA)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Spinocerebellar Ataxia type 3 (SCA3)
          Rechercher:
          North York General Hospital
          Rechercher:
          Spinocerebellar Ataxia type 3 (SCA3)
          Rechercher:
          ATXN3 (CAG repeats)

          Spinocerebellar Ataxia type 6 (SCA6)
          Catégorie :
          Neurogenetics
          Sub Category:
          Spinocerebellar Ataxia (SCA)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Spinocerebellar Ataxia type 6 (SCA6)
          Rechercher:
          North York General Hospital
          Rechercher:
          Spinocerebellar Ataxia type 6 (SCA6)
          Rechercher:
          CACNA1A (CAG repeats)

          Spinocerebellar Ataxia type 7 (SCA7)
          Catégorie :
          Neurogenetics
          Sub Category:
          Spinocerebellar Ataxia (SCA)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Spinocerebellar Ataxia type 7 (SCA7)
          Rechercher:
          North York General Hospital
          Rechercher:
          Spinocerebellar Ataxia type 7 (SCA7)
          Rechercher:
          ATXN7 (CAG repeats)

          Spinocerebellar Ataxia type 8 (SCA8)
          Catégorie :
          Neurogenetics
          Sub Category:
          Spinocerebellar Ataxia (SCA)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Spinocerebellar Ataxia type 8 (SCA8)
          Rechercher:
          North York General Hospital
          Rechercher:

          Spinocerebellar Ataxia type 8 (SCA8)

          Rechercher:

          ATXN8OS (ATXN8) (CTA-CTG repeats)

          Succinic semialdehyde dehydrogenase deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Organic Acid Disorders
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Succinic semialdehyde dehydrogenase deficiency
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Succinic semialdehyde dehydrogenase deficiency, 4-hydroxybutyric aciduria SSADH deficiency
          Rechercher:
          ALDH5A1

          Targeted Microarray
          Catégorie :
          Chromosomal Anomalies, Neurodevelopmental
          Sub Category:
          Microarray: Microduplication/deletion Syndrome
          Lab:
          Test type:
          Cytogenetic
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Targeted Microarray
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Targeted Microarray

          Tay-Sachs Disease
          Catégorie :
          Neurogenetics
          Sub Category:
          Tay-Sachs Disease
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Tay-Sachs Disease
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Tay-Sachs Disease
          Rechercher:
          HEXA

          Thanatophoric Dysplasia (Type I & II)
          Catégorie :
          Skeletal\Growth
          Sub Category:
          Thanatophoric Dysplasia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          Thanatophoric Dysplasia (Type I & II)
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          Skeletal Dysplasias: Thanatophoric Dysplasia
          Rechercher:
          FGFR2, FGFR3, TWIST1

          Thoracic aneurisms and aortic dissections
          Catégorie :
          Cardiogenetics
          Sub Category:
          Thoracic aneurisms and aortic dissections
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Thoracic aneurisms and aortic dissections
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Thoracic aneurisms and aortic dissections (TAAD), Annuloaortic ectasia, Familial aortic dissection, Familial aortic aneurysm
          Rechercher:
          ACTA2, ARIH1, COL3A1, EFEMP2, FBN1, FOXE3, LOX, MYH11, MYLK, PRKG1, ROBO4, SLC2A10, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, THSD4

          Thrombosis
          Catégorie :
          Hematology
          Sub Category:
          Thrombosis
          Lab:
          Test type:
          Targeted Variant
          Lab/Location:
          University Health Network
          Rechercher:
          Thrombosis
          Rechercher:
          University Health Network
          Rechercher:

          prothrombin deficiency, Prothrombin Thrombophilia, F2-related thrombophilia, factor II-related thrombophilia, prothrombin 20210G>A thrombophilia, FII, factor V leiden deficiency, factor V leiden thrombophilia, FV

          Rechercher:

          F2 (NM_00506.4:c.*_97G>A (Prothrombin G20210A)), F5 (NM_000130.3: p.Arg534Gln (Factor V Leiden R506Q)), MTHFR (NM_005957.3: p.Ala222Val (MTHFR C677T))

          TPMT/NUDT15 Panel (Pharmacogenetic testing)
          Catégorie :
          Hematology
          Sub Category:
          TPMT/NUDT15 Panel (Pharmacogenetic testing)
          Lab:
          Test type:
          Gene Panel, Targeted Variant
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          TPMT/NUDT15 Panel (Pharmacogenetic testing)
          Rechercher:
          The Hospital for Sick Children
          Rechercher:
          New Leukemia Diagnosis
          Rechercher:
          TPMT (*2, *3A, *3B, *3C), NUDT15 (*3 & *5)

          TPMT Gene Mutation
          Catégorie :
          Pharmacogenetics
          Sub Category:
          Thiopurine S-methyltransferase deficiency (TPMT)
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          TPMT Gene Mutation
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:
          TPMT

          Transcobalamin II Deficiency (TCN2 gene)
          Catégorie :
          Metabolic
          Sub Category:
          Transcobalamin II Deficiency
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Transcobalamin II Deficiency (TCN2 gene)
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Transcobalamin II Deficiency

          Rechercher:

          TCN2

          Tuberous Sclerosis
          Catégorie :
          Cancer
          Sub Category:
          Tuberous Sclerosis
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          University Health Network
          Rechercher:
          Tuberous Sclerosis
          Rechercher:
          University Health Network
          Rechercher:
          Tuberous Sclerosis Complex, Bourneville Pringle Syndrome, Phakomatosis, TS, Tuberose Sclerosis
          Rechercher:
          TSC1, TSC2

          Tuberous Sclerosis
          Catégorie :
          Cancer
          Sub Category:
          Tuberous Sclerosis
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          North York General Hospital
          Rechercher:
          Tuberous Sclerosis
          Rechercher:
          North York General Hospital
          Rechercher:
          Tuberous Sclerosis
          Rechercher:
          TSC1, TSC2

          Tuberous Sclerosis
          Catégorie :
          Cancer
          Sub Category:
          Tuberous Sclerosis
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Tuberous Sclerosis
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Tuberous Sclerosis
          Rechercher:
          TSC1, TSC2

          Tuberous Sclerosis
          Catégorie :
          Cancer
          Sub Category:
          Tuberous Sclerosis
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Tuberous Sclerosis
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Tuberous Sclerosis
          Rechercher:
          TSC1, TSC2

          Tuberous Sclerosis
          Catégorie :
          Cancer
          Sub Category:
          Tuberous Sclerosis
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Tuberous Sclerosis
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Tuberous Sclerosis
          Rechercher:
          TSC1, TSC2

          Tuberous Sclerosis
          Catégorie :
          Cancer
          Sub Category:
          Tuberous Sclerosis
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Tuberous Sclerosis
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Tuberous Sclerosis

          Rechercher:

          TSC1, TSC2

          Tyrosinemia
          Catégorie :
          Metabolic
          Sub Category:
          Amino Acid Disorders
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Tyrosinemia
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Tyrosinemia 1, Tyrosinemia 2, Tyrosinemia 3, MAAI
          Rechercher:
          FAH, GSTZ1, HPD, TAT

          Tyrosinemia: Elevated Succinylacetone
          Catégorie :
          Metabolic
          Sub Category:
          Tyrosinemia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Tyrosinemia: Elevated Succinylacetone
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Tyrosinemia Type 1, FAH deficiency fumarylacetoacetase deficiency fumarylacetoacetate hydrolase deficiency hepatorenal tyrosinemia hereditary tyrosinemia type 1
          Rechercher:
          FAH, GSTZ1

          Tyrosinemia: Elevated Tyrosine
          Catégorie :
          Metabolic
          Sub Category:
          Tyrosinemia
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Tyrosinemia: Elevated Tyrosine
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Tyrosinemia type II, Richner Hanhart syndrome, TAT deficiency, Tyrosine transaminase deficiency, Keratosis palmoplantaris with corneal dystrophy, Oregon type tyrosinemia, Tyrosinosis oculocutaneous type, Tyrosine aminotransferase deficiency, Oculocutaneous tyrosinemia
          Rechercher:
          HPD, TAT

          Uniparental Disomy (UPD) of chromosomes 14 and 15
          Catégorie :
          Chromosomal Anomalies, Neurodevelopmental
          Sub Category:
          Uniparental Disomy: Chromosome 14 & 15
          Lab:
          Test type:
          Autre
          Lab/Location:
          North York General Hospital
          Rechercher:
          Uniparental Disomy (UPD) of chromosomes 14 and 15
          Rechercher:
          North York General Hospital
          Rechercher:

          Uniparental Disomy, UPD14 and UPD15

          Rechercher:

          Chromosomes 14 and 15

          Urea Cycle Diseases: All
          Catégorie :
          Metabolic
          Sub Category:
          Urea Cycle Disorders
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Urea Cycle Diseases: All
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          ARG1, ASL, ASS1, BCKDHA, BCKDHB, CA5A, CPS1, DBT, DLD, GLUD1, GLUL, NAGS, OAT, OTC, SLC25A13, SLC25A15, SLC25A2, SLC7A7

          Urea Cycle Diseases: High ASA
          Catégorie :
          Metabolic
          Sub Category:
          Urea Cycle Disorders
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Urea Cycle Diseases: High ASA
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Argininosuccinic aciduria, Arginino succinase deficiency, argininosuccinate lyase deficiency, argininosuccinate acid lyase deficiency, ASA, ASL deficiency
          Rechercher:
          ASL

          Urea Cycle Diseases: High Citrulline
          Catégorie :
          Metabolic
          Sub Category:
          Urea Cycle Disorders
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Urea Cycle Diseases: High Citrulline
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Citrullinemia Type II, Citrullinemia type 2 Adult-onset, citrullinemia type 2, CTLN2, Citrin deficiency, Adult-onset citrullinemia type II, Adult-onset citrin deficiency, Adult-onset type II citrullinemia
          Rechercher:
          ASS1, SLC25A13

          Urea Cycle Diseases: Low citrulline
          Catégorie :
          Metabolic
          Sub Category:
          Urea Cycle Disorders
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Urea Cycle Diseases: Low citrulline
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Citrullinemia type I, Classic citrullinemia Argininosuccinate synthetase deficiency, CTNL1, Citrullinuria, ASS deficiency, Citrullinemia 1
          Rechercher:
          CPS1, NAGS, OTC

          Urea Cycle Diseases: Other
          Catégorie :
          Metabolic
          Sub Category:
          Urea Cycle Disorders
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          Urea Cycle Diseases: Other
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Urea Cycle Disorders
          Rechercher:
          ARG1, CA5A, GLUD1, GLUL, OAT, SLC25A15, SLC25A2, SLC7A7

          Urea Cycle Disorders
          Catégorie :
          Metabolic
          Sub Category:
          Urea Cycle Disorders
          Lab:
          Test type:
          Gene Panel
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Urea Cycle Disorders
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          N-acetylglutamate synthase (NAGS) deficiency, Carbamoylphosphate synthetase I (CPS1) deficiency, Ornithine transcarbamylase (OTC) deficiency, Argininosuccinate synthase 1 (ASS1) deficiency or Citrullinemia type I, Citrin deficiency or Citrullinemia type II, Argininosuccinic lyase (ASL) deficiency, Arginase (ARG) deficiency, Ornithine translocase deficiency

          Rechercher:

          ARG1, ASL, ASS1, CA5A, CPS1, GLUD1, GLUL, NAGS, OTC, SLC25A13, SLC25A15, SLC25A2, SLC7A7

          Very Long Chain acyl-CoA dehydrogenase Deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Very Long Chain acyl-CoA dehydrogenase Deficiency
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Hamilton Health Sciences Centre
          Rechercher:
          Very Long Chain acyl-CoA dehydrogenase Deficiency
          Rechercher:
          Hamilton Health Sciences Centre
          Rechercher:
          Very Long Chain acyl-CoA dehydrogenase Deficiency (VLCAD Deficiency)
          Rechercher:
          ACADVL

          VLCAD deficiency
          Catégorie :
          Metabolic
          Sub Category:
          Fatty Acid Oxidation Diseases
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Newborn Screening Ontario
          Rechercher:
          VLCAD deficiency
          Rechercher:
          Newborn Screening Ontario
          Rechercher:
          Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency, VLCAD Deficiency
          Rechercher:
          ACADVL

          Von Hippel-Lindau Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Von Hippel-Lindau Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Kingston General Hospital
          Rechercher:
          Von Hippel-Lindau Syndrome
          Rechercher:
          Kingston General Hospital
          Rechercher:
          Von Hippel-Lindau Syndrome
          Rechercher:
          VHL

          Von Hippel-Lindau Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Von Hippel-Lindau Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Von Hippel-Lindau Syndrome
          Rechercher:
          Trillium Health Partners - Credit Valley Hospital
          Rechercher:
          Von Hippel-Lindau Syndrome
          Rechercher:
          VHL

          Von Hippel-Lindau Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Von Hippel-Lindau Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          North York General Hospital
          Rechercher:
          Von Hippel-Lindau Syndrome
          Rechercher:
          North York General Hospital
          Rechercher:
          Von Hippel-Lindau Syndrome
          Rechercher:
          VHL

          Von Hippel-Lindau Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Von Hippel-Lindau Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          Mount Sinai Hospital
          Rechercher:
          Von Hippel-Lindau Syndrome
          Rechercher:
          Mount Sinai Hospital
          Rechercher:
          Von Hippel-Lindau Syndrome
          Rechercher:
          VHL

          Von Hippel-Lindau Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Von Hippel-Lindau Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          University Health Network
          Rechercher:
          Von Hippel-Lindau Syndrome
          Rechercher:
          University Health Network
          Rechercher:
          VHL syndrome, VHL disease, Von Hippel-Lindau syndrome
          Rechercher:
          VHL

          Von Hippel-Lindau Syndrome
          Catégorie :
          Cancer
          Sub Category:
          Von Hippel-Lindau Syndrome
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          London Health Sciences Centre
          Rechercher:
          Von Hippel-Lindau Syndrome
          Rechercher:
          London Health Sciences Centre
          Rechercher:

          Von Hippel-Lindau Syndrome

          Rechercher:

          VHL

          von Willebrand disease
          Catégorie :
          Hematology
          Sub Category:
          von Willebrand disease
          Lab:
          Test type:
          Single Gene
          Lab/Location:
          National Inherited Bleeding Disorder Genotyping Laboratory, KGH
          Rechercher:
          von Willebrand disease
          Rechercher:
          National Inherited Bleeding Disorder Genotyping Laboratory, KGH
          Rechercher:
          von Willebrand Factor Deficiency, von Willebrand disease
          Rechercher:
          VWF

          WES (Singleton, Duo, Trio, Quad)
          Catégorie :
          Genome-wide
          Sub Category:
          Whole Exome Sequencing (WES)
          Lab:
          Test type:
          Genome-wide
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          WES (Singleton, Duo, Trio, Quad)
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Rare genetic disorder

          Rechercher:

          Whole Exome

          WGS (Singleton, Duo, Trio, Quad)
          Catégorie :
          Genome-wide
          Sub Category:
          Whole Genome Sequencing (WGS)
          Lab:
          Test type:
          Genome-wide
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          WGS (Singleton, Duo, Trio, Quad)
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          Rare genetic disorder

          Rechercher:

          Whole genome

          Whole Exome Sequencing (WES)
          Catégorie :
          Genome-wide
          Sub Category:
          Whole Exome Sequencing (WES)
          Lab:
          Test type:
          Genome-wide
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Whole Exome Sequencing (WES)
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Moderate to severe developmental or functional impairment, Multisystem involvement Progressive clinical course, Differential diagnosis includes ≥ 2 well defined conditions requiring evaluation by multiple targeted gene panels, Suspected severe genetic syndrome NYD for which multiple family members are also affected or where parents are consanguineous

          Whole Genome Sequencing (WGS)
          Catégorie :
          Genome-wide
          Sub Category:
          Whole Genome Sequencing (WGS)
          Lab:
          Test type:
          Genome-wide
          Lab/Location:
          Children's Hospital of Eastern Ontario
          Rechercher:
          Whole Genome Sequencing (WGS)
          Rechercher:
          Children's Hospital of Eastern Ontario
          Rechercher:

          Moderate to severe developmental or functional impairment, Multisystem involvement Progressive clinical course, Differential diagnosis includes ≥ 2 well defined conditions requiring evaluation by multiple targeted gene panels, Suspected severe genetic syndrome NYD for which multiple family members are also affected or where parents are consanguineous

          X-Inactivation Analysis
          Catégorie :
          Multipurpose
          Sub Category:
          X-Inactivation Analysis
          Lab:
          Test type:
          Autre
          Lab/Location:
          The Hospital for Sick Children
          Rechercher:
          X-Inactivation Analysis
          Rechercher:
          The Hospital for Sick Children
          Rechercher:

          X-Inactivation Analysis

          Rechercher:

          AR

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          Nous n'avons trouvé aucune correspondance. Veuillez réinitialiser les filtres ou recommencer la recherche.
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          Dernière Mise à Jour: 04 juin 2026

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