Répertoire des tests génétiques

Cardiomyopathy

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

Cardiomyopathy and Arrhythmia

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

Cardiomyopathy and Arrhythmia

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

Cardiomyopathy

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

Hypertrophic Cardiomyopathy

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

Hypertrophic Cardiomyopathy

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

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

HBA1, HBA2, HBZ

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

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

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

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 (AS)

15q11-13

UPD15, Angelman Syndrome

Chromosome 15

Ashkenazi Jewish Panel

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

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

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

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

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

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

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

Ataxia Telangiectasia, Nijmegen Breakage syndrome, Chromosome Breakage Test

All chromosomes

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

HBB, HBD, HbE, HBG1, HBG2

Bloom Syndrome, Sister Chromatid Exchange

All chromosomes, BLM

Engraftment, BMT Monitoring

ASPA

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

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

G-band analysis, Whole Genome

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

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

chromosome complement

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

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

NSD2(MMSET)/NELFA(WHSC2)

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)

HIRA (TUPLE1)

X,Y, 13, 18, 21

UBE3A

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

5p15.2 Region (D5S23/D5S721)

Disorders of sex Development

SRY

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

KAL

SNRPN

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

SHMT1/TOP3A/FLII/LLGL1

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

STS

SHOX

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)

ELN

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

22q11.2 (DiGeorge/VCFS)

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))

HIRA

Disorders of sex development

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

Kallman Syndrome

KAL

Miller-Dieker Syndrome

LIS1

Prader Willi/Angelman Syndrome

SNRPN

Smith-Magenis Syndrome

SMS

Williams Syndrome

ELN

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

CFTR

Dihydropyrimidine dehydrogenase deficiency (DPYD)

DPYD

Dihydropyrimidine dehydrogenase deficiency, DPYD genotyping, DPYD pharmacogenomics

DPYD

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

DPYD

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

DPYD

Pharmacogenetics, Dihydropyrimidine dehydrogenase deficiency (DPYD)

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

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

F2, F5

Cell Lines

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)

DiGeorge syndrome (22q11.2/TUPLE1)

Chromosome 1-22, X and Y

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)

HIRA (TUPLE1), 22q11.21

Angelman Syndrome (AS)

SNRPN (15q11.2)

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

5p15.2, 5p15.31

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))

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

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

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

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)

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

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

KAL1, Xp22.33

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

PAFAH1B1 (LIS1), 17p13.3

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

SHANK3, 22q13.33

Prader-Willi Syndrome (PWS)

SNRPN, D15S10 (15q11.2)

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

TWIST1, 7p21.2

Smith-Magenis Syndrome, Microdeletion 22q11.2 Syndrome

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

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

RAI1, 17p11.2

Sotos syndrome (Sotos syndrome, cerebral gigantism)

NSD1, 5q35

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

STS, Xp11.31

Williams Syndrome, 7q11.23 Deletion

7q11.23/7q31