Répertoire des tests génétiques

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

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

TTR

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

TTR

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

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

ARG1

Arrhythmia

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

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

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 (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

NM_000038.6(APC):c.3920T>A, p.(Ile1307Lys); NM_007294.4(BRCA1):c.68_69del, p.(Glu23Valfs*17); NM_007294.4(BRCA1):c.5266dup, p.(Gln1756Profs*74); NM_000059.4(BRCA2):c.5946del, p.(Ser1982Argfs*22); NM_007194.4(CHEK2):c.1283C>T, p.(Ser428Phe); 40 kb duplication upstream of GREM1 (SCG5 region); NM_000251.3(MSH2):c.1906G>C, p.(Ala636Pro); NM_000179.3 (MSH6):c.3984_3987dup, p.(Leu1330Valfs*12); NM_000179.3(MSH6):c.3959_3962del, p.(Ala1320Glufs*6)

Ataxia Telangiectasia, Nijmegen Breakage syndrome, Chromosome Breakage Test

All chromosomes

Aicardi-Goutieres syndrome

ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1

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

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

AP3B1, BLOC1S6, CD27, CD70, ITK, LYST, MAGT1, NLRC4, PRF1, RAB27A, SH2D1A, SLC7A7, STX11, STXBP2, UNC13D, XIAP

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

MEFV, MVK, NLRP12, NLRP3, TNFRSF1A

AXIN2-related Attenuated Familial Adenomatous Polyposis

AXIN2

BAP1 Tumour Predisposition Syndrome

BAP1

Nevoid Basal Cell Carcinoma Syndrome/ Gorlin Syndrome

PTCH1, SUFU

Batten Disease, neuronal ceroid lipofuscinosis (NCL)

See Lysosomal Storage Disease Panel

BMD, DMD-associated dilated cardiomyopathy

DMD

BWS, Wiedemann-Beckwith Syndrome, IMAGe Syndrome

11p15, CDKN1C, H19 (IC1), KCNQ1 (IC2)

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

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

BTD

Birt-Hogg-Dube Syndrome

FLCN

Bloom Syndrome, Sister Chromatid Exchange

All chromosomes, BLM

Engraftment, BMT Monitoring

Epilepsy

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

SCN5A

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

NOTCH3

ASPA

Carney Complex

PRKAR1A

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN (c.484+1189G>A, c.22+29A>G for transcript NM_004999.4)

Epilepsy

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

ARSE

Disorder of sex development (DSD), Prenatal, Suspected chromosome aneuploidy/mosaicism, Family history of chromosome rearrangement

All chromosomes

Disorder of sex development (DSD)

All chromosomes

Ambiguous genitalia, Klinefelter syndrome, Turner syndrome, Family Hx of Chromosome Rearrangement 

All chromosomes

Ambiguous genitalia, Klinefelter syndrome, Turner syndrome, Trisomy (specify), Chromosome anomaly follow-up (specify), Family history of chromosome anomaly (specify) 

All chromosomes

Ambiguous genitalia, Short Stature, Stillbirth, Klinefelter Syndrome, Neonatal Death

All chromosomes 

Clinical features suggestive of aneuploidy,Differences of sex development (DSD), Family history of chromosomal anomalies

All chromosomes

Turner Syndrome, Suspected Mosaicism

All chromosomes 

Blood Clotting Disorders

FII, FV, MTHFR

Epilepsy

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

Congenital Adrenal Hyperplasia (CAH)

ARMC5, CYP11B1, CYP11B2, CYP17A1, HSD3B2, POR, PRKAR1A, STAR

FCMD, FKRP, POMGNT1, POMT1, POMT2

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

G-band analysis, Whole Genome

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

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)

13q14 (RB1), 18p11.1-q11.1 (D18Z1), 21q22.13-q22.2 (D21S259/D21S341/D21S342), Xp11.1-q11.1 (DXZ1), Yp11.1-q11.1 (DYZ3)

Angelman Syndrome (AS)

15q11-q13 (SNRPN)

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

5p15.2 (D5S721/D5S23)

Disorders of sex Development

Yp11.3 (SRY), Xp11.1-q11.1 (CEP X)

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

Xp22.3 (KAL)

Prader-Willi Syndrome (PWS)

15q11-q13 (SNRPN)

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

17p11.2 (FLII, TOP3, SHMT1)

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

Xp22.3 (STS)

Turner Syndrome (Monosomy X, short stature, 45,X)

Xp22.33/Yp11.32 (SHOX), Yq12 (DYZ1), Xp11.1-q11.1 (DXZ1); Yp11.3 (SRY), Xp11.1-q11.1 (DXZ1)

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)

7q11.23 (ELN)

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

22q11.2 (DiGeorge/VCFS)

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

4p16.3 (NDS2(MMSET)/NELFA(WHSC2))

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

FGFR1, FGFR2, FGFR3, TWIST1

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

CFTR

Cystic Fibrosis, Congenital Bilateral Absence of the Vas Deferens (CBAVD), CFTR-related hereditary pancreatitis, Bronchiectasis, Mucoviscidosis

CFTR