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Myriad Genetics, Inc.

General information

Myriad Genetics, Inc.

322 North 2200 West
Salt Lake City
Utah
United States - 84116
https://myriad.com/
Organization ID: 507240

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 18734

Gene

GeneSubmissionsLast Updated
ABCC842Nov 17, 2022
ABCD17Nov 17, 2022
ACADM15Nov 17, 2022
ACADS10Nov 17, 2022
ACADVL31Nov 17, 2022
ACYP11Jan 15, 2022
ADA18Nov 17, 2022
ADAMTS222Nov 17, 2022
AGA2Jan 15, 2022
AGL75Nov 17, 2022
AGXT20Nov 17, 2022
AIRE18Nov 17, 2022
ALDH3A218Nov 17, 2022
ALDOB15Nov 17, 2022
ALG615Nov 17, 2022
ALMS158Nov 17, 2022
ALPL16Nov 17, 2022
AMT2Nov 17, 2022
AOPEP11Nov 17, 2022
APBB12Jan 15, 2020
APC2833Apr 22, 2024
ARG111Nov 17, 2022
ARSA14Nov 17, 2022
ASL25Nov 17, 2022
ASPA10Nov 17, 2022
ASS111Nov 17, 2022
ATM1450May 8, 2024
ATP7A61Nov 17, 2022
ATP7B64Nov 17, 2022
AXDND13Nov 17, 2022
AXIN243Apr 22, 2024
BAP152Apr 22, 2024
BARD1386Apr 22, 2024
BBS118Nov 17, 2022
BBS104Nov 17, 2022
BBS235Nov 17, 2022
BCHE2Nov 17, 2022
BCKDHA17Nov 17, 2022
BCKDHB17Nov 17, 2022
BCS1L11Nov 17, 2022
BLM5Nov 17, 2022
BMPR1A104Apr 22, 2024
BRCA1143Apr 22, 2024
BRCA2236Apr 22, 2024
BRIP1596Apr 22, 2024
BTD10Nov 17, 2022
C11orf65563May 8, 2024
CAPN322Nov 17, 2022
CARD141Jun 18, 2020
CBS22Nov 17, 2022
CCDC1071Jun 18, 2020
CDH1402Dec 21, 2023
CDK411Jul 25, 2023
CDKL51Jun 18, 2020
CDKN2A47Oct 25, 2023
CFTR149Nov 17, 2022
CFTR-AS116Nov 17, 2022
CHEK2553Apr 22, 2024
CHM7Nov 17, 2022
CLN310Nov 17, 2022
CLN52Nov 17, 2022
CLN67Nov 17, 2022
CLN82Nov 17, 2022
CLRN12Nov 17, 2022
CLRN1-AS11Jun 18, 2020
CNGB316Nov 17, 2022
COL4A381Nov 17, 2022
COL4A475Nov 17, 2022
COL4A570Nov 17, 2022
CP6Nov 17, 2022
CPS166Nov 17, 2022
CPT1A16Nov 17, 2022
CPT28Nov 17, 2022
CTNNA155Apr 22, 2024
CTNS7Nov 17, 2022
CTNS-AS16Nov 17, 2022
CTSK14Nov 17, 2022
CYP11B115Nov 17, 2022
CYP21A28Jun 18, 2020
CYP27A121Nov 17, 2022
DBT21Nov 17, 2022
DHCR724Nov 17, 2022
DHDDS1Jun 18, 2020
DHFR10Dec 21, 2023
DLD20Nov 17, 2022
DMD61Nov 17, 2022
DNAH11Jul 25, 2023
DNAH5191Nov 17, 2022
DVL22Nov 17, 2022
DYSF97Nov 17, 2022
EGFR1Mar 2, 2023
EGFR-AS11Mar 2, 2023
ELP148Nov 17, 2022
ERCC665Nov 17, 2022
ERCC813Nov 17, 2022
ERCC8-AS12Oct 30, 2020
EVC48Nov 17, 2022
EVC245Nov 17, 2022
F1116Nov 17, 2022
FAH14Nov 17, 2022
FANCA43Nov 17, 2022
FANCC21Nov 17, 2022
FBXL31Jun 18, 2020
FH64Apr 22, 2024
FKRP1Jun 18, 2020
FKTN13Nov 17, 2022
FLCN69Apr 22, 2024
G6PC111Nov 17, 2022
GAA32Nov 17, 2022
GALC21Nov 17, 2022
GALK117Nov 17, 2022
GALT33Nov 17, 2022
GAREM29Nov 17, 2022
GATAD113Nov 17, 2022
GBA19Jun 18, 2020
GBE11Jan 15, 2020
GCDH16Nov 17, 2022
GJB222Nov 17, 2022
GLA4Nov 17, 2022
GLB115Nov 17, 2022
GLDC60Nov 17, 2022
GNE20Nov 17, 2022
GNPTAB66Nov 17, 2022
GNPTG9Nov 17, 2022
GRHPR12Nov 17, 2022
HADHA23Nov 17, 2022
HBA11Jun 18, 2020
HBA21Jun 18, 2020
HBB27Jun 18, 2020
HEXA40Nov 17, 2022
HEXA-AS11Jan 15, 2020
HEXB26Nov 17, 2022
HFE2Jun 18, 2020
HFE-AS11Jun 18, 2020
HGD9Nov 17, 2022
HGSNAT25Nov 17, 2022
HLCS40Nov 17, 2022
HMGCL9Nov 17, 2022
HOGA14Nov 17, 2022
HOXB131Jul 25, 2023
HPS335Nov 17, 2022
HSD17B429Nov 17, 2022
HYLS11Jan 15, 2020
IDS9Nov 17, 2022
IDUA27Nov 17, 2022
IL2RG6Nov 17, 2022
IVD14Nov 17, 2022
KIRREL211Nov 17, 2022
LAMA2165Nov 17, 2022
LAMA32Nov 17, 2022
LAMB356Nov 17, 2022
LAMC242Nov 17, 2022
LIPA16Nov 17, 2022
LOC1060501026Nov 17, 2022
LOC10609906222Jun 18, 2020
LOC1066279817Jun 18, 2020
LOC1067808008Jun 18, 2020
LOC10679983315Nov 17, 2022
LOC1068046121Jun 18, 2020
LOC10713351027Jun 18, 2020
LOC10730334014Apr 22, 2024
LOC1073033433Nov 17, 2022
LOC1074575851Nov 17, 2022
LOC1100063196Jun 18, 2020
LOC1101214711Nov 17, 2022
LOC1114130292Nov 17, 2022
LOC11167447210Nov 17, 2022
LOC11167447512Nov 17, 2022
LOC1124862232Nov 17, 2022
LOC1136338771Jun 18, 2020
LOC1136641061Jun 18, 2020
LOC1171255944Nov 17, 2022
LOC12215229612Nov 17, 2022
LOC1238640654Nov 17, 2022
LOC1239562104Nov 17, 2022
LOC1254462612Jan 15, 2022
LOC1268062522Nov 17, 2022
LOC1268063731Nov 17, 2022
LOC1268069616Nov 17, 2022
LOC1268073187Nov 17, 2022
LOC1268074378Apr 22, 2024
LOC1268596908Nov 17, 2022
LOC1268604381Nov 17, 2022
LOC1268609334Nov 17, 2022
LOC1268613393Apr 22, 2024
LOC1268616153Nov 17, 2022
LOC1268620971Nov 17, 2022
LOC1268622642Jun 18, 2020
LOC12686257112Apr 22, 2024
LOC1268628602Nov 17, 2022
LOC12939090320Apr 22, 2024
LOC1293910643Nov 17, 2022
LOC1299295422Dec 21, 2023
LOC1299304461Nov 17, 2022
LOC1299305612Nov 17, 2022
LOC1299337079Dec 21, 2023
LOC1299921444Nov 17, 2022
LOC1299925851Nov 17, 2022
LOC1299944601Jun 18, 2020
LOC1299987961Nov 17, 2022
LOC1300016034Jul 25, 2023
LOC1300016833Nov 17, 2022
LOC1300081481Jul 25, 2023
LOC1300093661Nov 17, 2022
LOC1300569211Nov 17, 2022
LOC1300581582Nov 17, 2022
LOC1300598371Nov 17, 2022
LOC1300609031Nov 17, 2022
LOC1300613103Apr 22, 2024
LOC13006289913Apr 22, 2024
LOC1300633761Nov 17, 2022
LOC1300636482Oct 30, 2020
LOC1320894541Nov 17, 2022
LOC1320904502Nov 17, 2022
LOXHD124Nov 17, 2022
LRPPRC54Nov 17, 2022
MAN2B153Nov 17, 2022
MCOLN112Nov 17, 2022
MED2310Nov 17, 2022
MEFV5Jun 18, 2020
MEN135Apr 22, 2024
MET1Jul 25, 2023
MFF-DT81Nov 17, 2022
MIR67531Nov 17, 2022
MKS119Nov 17, 2022
MLC118Nov 17, 2022
MLH1897Apr 22, 2024
MMAA11Nov 17, 2022
MMAB3Nov 17, 2022
MMACHC8Nov 17, 2022
MMUT28Nov 17, 2022
MPL32Nov 17, 2022
MSH21051Apr 22, 2024
MSH3257Apr 22, 2024
MSH61212Apr 22, 2024
MTHFR1Jan 15, 2020
MTM123Nov 17, 2022
MTTP48Nov 17, 2022
MUTYH13Apr 22, 2024
MYO7A93Nov 17, 2022
NAGLU8Nov 17, 2022
NBN19Nov 17, 2022
NDUFAF21Jun 18, 2020
NEB204Nov 17, 2022
NICN11Jan 15, 2022
NPC160Nov 17, 2022
NPC214Nov 17, 2022
NPHS142Nov 17, 2022
NPHS212Nov 17, 2022
NR2E32Nov 17, 2022
NTHL174Apr 22, 2024
OPA31Jun 18, 2020
OTC7Nov 17, 2022
PAH44Nov 17, 2022
PALB2924Apr 22, 2024
PC38Nov 17, 2022
PCCA20Nov 17, 2022
PCCB11Nov 17, 2022
PCDH1547Nov 17, 2022
PEX155Nov 17, 2022
PEX106Nov 17, 2022
PEX123Nov 17, 2022
PEX21Jun 18, 2020
PEX620Nov 17, 2022
PEX715Nov 17, 2022
PFKM23Nov 17, 2022
PGBD38Nov 17, 2022
PHYH6Nov 17, 2022
PKHD1125Nov 17, 2022
PMM223Nov 17, 2022
PMS2506Apr 22, 2024
POLD119Apr 22, 2024
POLE19Apr 22, 2024
POMGNT123Nov 17, 2022
PPT16Nov 17, 2022
PROP12Jun 18, 2020
PTEN440Apr 22, 2024
PTS1Nov 17, 2022
PUS31Jan 15, 2020
RAD51C189Apr 22, 2024
RAD51D159Apr 22, 2024
RAD51L3-RFFL159Apr 22, 2024
RET77Apr 22, 2024
RIF135Nov 17, 2022
RMRP1Jun 18, 2020
RPL36A-HNRNPH24Nov 17, 2022
RS12Nov 17, 2022
SACS28Nov 17, 2022
SDHA130Apr 22, 2024
SDHB46Apr 22, 2024
SDHC25Apr 22, 2024
SDHD10Apr 22, 2024
SERPINA13Nov 17, 2022
SGCA9Nov 17, 2022
SGCB5Nov 17, 2022
SGCD1Nov 17, 2022
SGCG4Nov 17, 2022
SGSH12Nov 17, 2022
SLC12A633Nov 17, 2022
SLC17A514Nov 17, 2022
SLC22A513Nov 17, 2022
SLC26A14Nov 17, 2022
SLC26A111Jun 18, 2020
SLC26A217Nov 17, 2022
SLC26A446Nov 17, 2022
SLC26A4-AS15Nov 17, 2022
SLC37A44Nov 17, 2022
SMAD475Apr 22, 2024
SMPD116Nov 17, 2022
SPATA2210Nov 17, 2022
STAR16Nov 17, 2022
STK11138Apr 22, 2024
SYCE22Nov 17, 2022
TAT9Nov 17, 2022
TAT-AS14Nov 17, 2022
TCIRG113Nov 17, 2022
TGM124Nov 17, 2022
TH14Nov 17, 2022
TMEM2161Jun 18, 2020
TNXB2Jun 18, 2020
TP53466Apr 22, 2024
TPP118Nov 17, 2022
TSC124Apr 22, 2024
TSC227Apr 22, 2024
TSPAN116Nov 17, 2022
TSPAN314Jul 25, 2023
TTPA6Nov 17, 2022
USH1C18Nov 17, 2022
USH2A96Nov 17, 2022
USH2A-AS115Nov 17, 2022
USH2A-AS23Nov 17, 2022
VHL29Apr 22, 2024
VPS13B33Nov 17, 2022
XPA1Nov 17, 2022
XPC3Nov 17, 2022
ZDHHC2412Nov 17, 2022
ZFYVE26100Nov 17, 2022
ZNF2762Jan 15, 2022

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 31Jun 18, 2020
3MC syndrome 24Jan 15, 2020
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency1Nov 17, 2022
ALG6-congenital disorder of glycosylation 1C15Nov 17, 2022
Abetalipoproteinaemia48Nov 17, 2022
Achondrogenesis, type IB5Nov 17, 2022
Achromatopsia 316Nov 17, 2022
Adrenoleukodystrophy7Nov 17, 2022
Adult hypophosphatasia13Nov 17, 2022
Adult neuronal ceroid lipofuscinosis3Oct 30, 2020
Agenesis of the corpus callosum with peripheral neuropathy33Nov 17, 2022
Alkaptonuria9Nov 17, 2022
Alpha-1-antitrypsin deficiency3Nov 17, 2022
Alstrom syndrome58Nov 17, 2022
Arginase deficiency11Nov 17, 2022
Argininosuccinate lyase deficiency25Nov 17, 2022
Aspartylglucosaminuria2Jan 15, 2022
Atelosteogenesis type II1Nov 17, 2022
Autosomal recessive Alport syndrome156Nov 17, 2022
Autosomal recessive DOPA responsive dystonia14Nov 17, 2022
Autosomal recessive congenital ichthyosis 124Nov 17, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2A22Nov 17, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2B97Nov 17, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2C4Nov 17, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2D9Nov 17, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2E4Nov 17, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2F1Nov 17, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2I1Jun 18, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2M12Nov 17, 2022
Autosomal recessive nonsyndromic hearing loss 1A22Nov 17, 2022
Autosomal recessive nonsyndromic hearing loss 7724Nov 17, 2022
Autosomal recessive osteopetrosis 113Nov 17, 2022
Autosomal recessive polycystic kidney disease6Jun 18, 2020
BAP1-related tumor predisposition syndrome52Apr 22, 2024
Bardet-Biedl syndrome 118Nov 17, 2022
Bardet-Biedl syndrome 104Nov 17, 2022
Bardet-Biedl syndrome 1318Nov 17, 2022
Bardet-Biedl syndrome 235Nov 17, 2022
Becker muscular dystrophy61Nov 17, 2022
Bifunctional peroxisomal enzyme deficiency29Nov 17, 2022
Biotinidase deficiency10Nov 17, 2022
Birt-Hogg-Dube syndrome60Dec 21, 2023
Birt-Hogg-Dube syndrome 19Apr 22, 2024
Bloom syndrome5Nov 17, 2022
Breast-ovarian cancer, familial, susceptibility to, 1143Apr 22, 2024
Breast-ovarian cancer, familial, susceptibility to, 2236Apr 22, 2024
Breast-ovarian cancer, familial, susceptibility to, 3189Apr 22, 2024
Breast-ovarian cancer, familial, susceptibility to, 4159Apr 22, 2024
Carnitine palmitoyl transferase 1A deficiency16Nov 17, 2022
Carnitine palmitoyl transferase II deficiency, myopathic form5Nov 17, 2022
Carnitine palmitoyl transferase II deficiency, neonatal form5Nov 17, 2022
Carnitine palmitoyl transferase II deficiency, severe infantile form8Nov 17, 2022
Ceroid lipofuscinosis, neuronal, 6A7Nov 17, 2022
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)4Nov 17, 2022
Charlevoix-Saguenay spastic ataxia28Nov 17, 2022
Childhood hypophosphatasia13Nov 17, 2022
Cholestanol storage disease21Nov 17, 2022
Choroideremia7Nov 17, 2022
Citrullinemia type I11Nov 17, 2022
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency8Jun 18, 2020
Classic homocystinuria22Nov 17, 2022
Cobalamin C disease8Nov 17, 2022
Cockayne syndrome type 113Nov 17, 2022
Cockayne syndrome type 265Nov 17, 2022
Cohen syndrome33Nov 17, 2022
Colorectal cancer, hereditary nonpolyposis, type 2897Apr 22, 2024
Colorectal cancer, susceptibility to, 1019Apr 22, 2024
Colorectal cancer, susceptibility to, 1219Apr 22, 2024
Congenital amegakaryocytic thrombocytopenia32Nov 17, 2022
Congenital hyperammonemia, type I66Nov 17, 2022
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type54Nov 17, 2022
Congenital lipoid adrenal hyperplasia due to STAR deficency16Nov 17, 2022
Cowden syndrome 1440Apr 22, 2024
Cutis laxa, X-linked61Nov 17, 2022
Cystic fibrosis149Nov 17, 2022
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase33Nov 17, 2022
Deficiency of alpha-mannosidase53Nov 17, 2022
Deficiency of butyryl-CoA dehydrogenase10Nov 17, 2022
Deficiency of butyrylcholinesterase2Nov 17, 2022
Deficiency of galactokinase17Nov 17, 2022
Deficiency of hydroxymethylglutaryl-CoA lyase9Nov 17, 2022
Deficiency of steroid 11-beta-monooxygenase15Nov 17, 2022
Diastrophic dysplasia5Nov 17, 2022
Distal myopathy with anterior tibial onset97Nov 17, 2022
Duchenne muscular dystrophy61Nov 17, 2022
Ehlers-Danlos syndrome, dermatosparaxis type22Nov 17, 2022
Ellis-van Creveld syndrome93Nov 17, 2022
Enhanced S-cone syndrome2Nov 17, 2022
Fabry disease4Nov 17, 2022
Familial Mediterranean fever5Jun 18, 2020
Familial adenomatous polyposis 12833Apr 22, 2024
Familial adenomatous polyposis 213Apr 22, 2024
Familial adenomatous polyposis 374Apr 22, 2024
Familial adenomatous polyposis 4257Apr 22, 2024
Familial cancer of breast3909May 8, 2024
Familial dysautonomia48Nov 17, 2022
Familial isolated deficiency of vitamin E6Nov 17, 2022
Fanconi anemia complementation group A43Nov 17, 2022
Fanconi anemia complementation group C21Nov 17, 2022
Finnish congenital nephrotic syndrome42Nov 17, 2022
GM1 gangliosidosis type 215Nov 17, 2022
GM1 gangliosidosis type 315Nov 17, 2022
GNE myopathy20Nov 17, 2022
GNPTG-mucolipidosis9Nov 17, 2022
GRACILE syndrome11Nov 17, 2022
Galactosylceramide beta-galactosidase deficiency21Nov 17, 2022
Gaucher disease type I9Jun 18, 2020
Glucose-6-phosphate transport defect4Nov 17, 2022
Glutaric aciduria, type 116Nov 17, 2022
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA11Nov 17, 2022
Glycogen storage disease type III75Nov 17, 2022
Glycogen storage disease, type II32Nov 17, 2022
Glycogen storage disease, type IV1Jan 15, 2020
Glycogen storage disease, type VII23Nov 17, 2022
Hemochromatosis type 12Jun 18, 2020
Hereditary diffuse gastric adenocarcinoma457Apr 22, 2024
Hereditary factor XI deficiency disease16Nov 17, 2022
Hereditary fructosuria15Nov 17, 2022
Hereditary leiomyomatosis and renal cell cancer64Apr 22, 2024
Hereditary spastic paraplegia 15100Nov 17, 2022
Hermansky-Pudlak syndrome 335Nov 17, 2022
Holocarboxylase synthetase deficiency40Nov 17, 2022
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1Jan 15, 2020
Hurler syndrome2Jun 18, 2020
Hydrolethalus syndrome 11Jan 15, 2020
Hyperinsulinemic hypoglycemia, familial, 142Nov 17, 2022
Infantile GM1 gangliosidosis15Nov 17, 2022
Infantile hypophosphatasia16Nov 17, 2022
Isovaleryl-CoA dehydrogenase deficiency14Nov 17, 2022
Joubert syndrome 21Jun 18, 2020
Joubert syndrome 2818Nov 17, 2022
Junctional epidermolysis bullosa gravis of Herlitz100Nov 17, 2022
Junctional epidermolysis bullosa, non-Herlitz type34Nov 17, 2022
Juvenile nephropathic cystinosis5Nov 17, 2022
Juvenile polyposis syndrome104Apr 22, 2024
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome75Apr 22, 2024
Juvenile retinoschisis2Nov 17, 2022
Li-Fraumeni syndrome 1466Apr 22, 2024
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency23Nov 17, 2022
Lung cancer1Mar 2, 2023
Lynch syndrome 11051Apr 22, 2024
Lynch syndrome 4506Apr 22, 2024
Lynch syndrome 51212Apr 22, 2024
Lysosomal acid lipase deficiency16Nov 17, 2022
Maple syrup urine disease55Nov 17, 2022
Meckel syndrome, type 119Nov 17, 2022
Medium-chain acyl-coenzyme A dehydrogenase deficiency15Nov 17, 2022
Megalencephalic leukoencephalopathy with subcortical cysts 118Nov 17, 2022
Melanoma, cutaneous malignant, susceptibility to, 311Jul 25, 2023
Melanoma-pancreatic cancer syndrome47Oct 25, 2023
Menkes kinky-hair syndrome61Nov 17, 2022
Merosin deficient congenital muscular dystrophy165Nov 17, 2022
Metachromatic leukodystrophy14Nov 17, 2022
Metaphyseal chondrodysplasia, McKusick type1Jun 18, 2020
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency28Nov 17, 2022
Methylmalonic aciduria, cblA type11Nov 17, 2022
Methylmalonic aciduria, cblB type3Nov 17, 2022
Microcephaly, normal intelligence and immunodeficiency19Nov 17, 2022
Mitochondrial complex III deficiency nuclear type 19Nov 17, 2022
Mitochondrial trifunctional protein deficiency22Nov 17, 2022
Miyoshi muscular dystrophy 197Nov 17, 2022
Mucolipidosis type II65Nov 17, 2022
Mucolipidosis type IV12Nov 17, 2022
Mucopolysaccharidosis, MPS-I-H/S25Nov 17, 2022
Mucopolysaccharidosis, MPS-II9Nov 17, 2022
Mucopolysaccharidosis, MPS-III-A12Nov 17, 2022
Mucopolysaccharidosis, MPS-III-B8Nov 17, 2022
Mucopolysaccharidosis, MPS-III-C25Nov 17, 2022
Multiple endocrine neoplasia type 2A76Apr 22, 2024
Multiple endocrine neoplasia type 2B1Jul 25, 2023
Multiple endocrine neoplasia, type 135Apr 22, 2024
Multiple epiphyseal dysplasia type 44Jun 18, 2020
Muscular dystrophy, limb-girdle, autosomal recessive 23165Nov 17, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 413Nov 17, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A322Nov 17, 2022
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B31Jan 15, 2020
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B412Nov 17, 2022
Nemaline myopathy 2204Nov 17, 2022
Nephropathic cystinosis7Nov 17, 2022
Nephrotic syndrome, type 212Nov 17, 2022
Neuronal ceroid lipofuscinosis 16Nov 17, 2022
Neuronal ceroid lipofuscinosis 218Nov 17, 2022
Neuronal ceroid lipofuscinosis 310Nov 17, 2022
Neuronal ceroid lipofuscinosis 52Nov 17, 2022
Neuronal ceroid lipofuscinosis 82Nov 17, 2022
Niemann-Pick disease, type A16Nov 17, 2022
Niemann-Pick disease, type B12Nov 17, 2022
Niemann-Pick disease, type C160Nov 17, 2022
Niemann-Pick disease, type C214Nov 17, 2022
Non-ketotic hyperglycinemia62Nov 17, 2022
Ocular cystinosis5Nov 17, 2022
Oligodontia-cancer predisposition syndrome43Apr 22, 2024
Ornithine carbamoyltransferase deficiency7Nov 17, 2022
PMM2-congenital disorder of glycosylation23Nov 17, 2022
Papillary renal cell carcinoma type 11Jul 25, 2023
Paragangliomas 110Apr 22, 2024
Paragangliomas 325Apr 22, 2024
Paragangliomas 446Apr 22, 2024
Paragangliomas 5130Apr 22, 2024
Pendred syndrome46Nov 17, 2022
Peroxisome biogenesis disorder 1A (Zellweger)54Nov 17, 2022
Peroxisome biogenesis disorder 1B53Nov 17, 2022
Peroxisome biogenesis disorder 3A (Zellweger)2Nov 17, 2022
Peroxisome biogenesis disorder 4A (Zellweger)20Nov 17, 2022
Peroxisome biogenesis disorder 5A (Zellweger)1Jun 18, 2020
Peroxisome biogenesis disorder 6A (Zellweger)6Nov 17, 2022
Peroxisome biogenesis disorder 6B6Nov 17, 2022
Peroxisome biogenesis disorder type 3B1Jun 18, 2020
Perrault syndrome 127Nov 17, 2022
Peutz-Jeghers syndrome138Apr 22, 2024
Phenylketonuria44Nov 17, 2022
Phytanic acid storage disease6Nov 17, 2022
Pili torti-deafness syndrome9Nov 17, 2022
Pituitary hormone deficiency, combined, 22Jun 18, 2020
Polycystic kidney disease 4119Nov 17, 2022
Polyglandular autoimmune syndrome, type 118Nov 17, 2022
Primary ciliary dyskinesia 3191Nov 17, 2022
Primary hyperoxaluria type 34Nov 17, 2022
Primary hyperoxaluria, type I20Nov 17, 2022
Primary hyperoxaluria, type II12Nov 17, 2022
Propionic acidemia31Nov 17, 2022
Prostate cancer, hereditary, 91Jul 25, 2023
Pseudo-Hurler polydystrophy66Nov 17, 2022
Pyknodysostosis14Nov 17, 2022
Pyruvate carboxylase deficiency38Nov 17, 2022
Pyruvate dehydrogenase E3 deficiency20Nov 17, 2022
Renal carnitine transport defect13Nov 17, 2022
Retinitis pigmentosa 371Nov 17, 2022
Retinitis pigmentosa 591Jun 18, 2020
Rhizomelic chondrodysplasia punctata type 115Nov 17, 2022
Salla disease14Nov 17, 2022
Sandhoff disease26Nov 17, 2022
Severe X-linked myotubular myopathy23Nov 17, 2022
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency18Nov 17, 2022
Sialic acid storage disease, severe infantile type13Nov 17, 2022
Sjögren-Larsson syndrome18Nov 17, 2022
Smith-Lemli-Opitz syndrome24Nov 17, 2022
Spongy degeneration of central nervous system10Nov 17, 2022
Tay-Sachs disease40Nov 17, 2022
Tuberous sclerosis 124Apr 22, 2024
Tuberous sclerosis 226Apr 22, 2024
Tyrosinemia type I14Nov 17, 2022
Tyrosinemia type II9Nov 17, 2022
Usher syndrome type 193Nov 17, 2022
Usher syndrome type 1C18Nov 17, 2022
Usher syndrome type 1D47Nov 17, 2022
Usher syndrome type 2A96Nov 17, 2022
Usher syndrome type 31Jun 18, 2020
Usher syndrome type 3A1Nov 17, 2022
Very long chain acyl-CoA dehydrogenase deficiency31Nov 17, 2022
Von Hippel-Lindau syndrome29Apr 22, 2024
Wilson disease64Nov 17, 2022
X-linked Alport syndrome70Nov 17, 2022
X-linked distal spinal muscular atrophy type 361Nov 17, 2022
X-linked severe combined immunodeficiency6Nov 17, 2022
Xeroderma pigmentosum group A1Nov 17, 2022
Xeroderma pigmentosum, group C3Nov 17, 2022
alpha Thalassemia1Jun 18, 2020
beta Thalassemia27Jun 18, 2020

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 32 tests
4p partial monosomy syndrome1 test
5p partial monosomy syndrome1 test
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency1 test
ALG6-congenital disorder of glycosylation 1C1 test
AXIN2-related attenuated familial adenomatous polyposis2 tests
Achondrogenesis, type IB1 test
Achromatopsia1 test
Adrenoleukodystrophy1 test
Agenesis of the corpus callosum with peripheral neuropathy2 tests
Alkaptonuria1 test
Alpha-1-antitrypsin deficiency1 test
Alstrom syndrome1 test
Angelman syndrome1 test
Arginase deficiency1 test
Argininosuccinate lyase deficiency1 test
Aspartylglucosaminuria2 tests
Ataxia-telangiectasia syndrome2 tests
Autosomal dominant nonsyndromic hearing loss 111 test
Autosomal recessive Alport syndrome2 tests
Autosomal recessive DOPA responsive dystonia2 tests
Autosomal recessive congenital ichthyosis 11 test
Autosomal recessive distal spinal muscular atrophy 11 test
Autosomal recessive distal spinal muscular atrophy 21 test
Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
Autosomal recessive limb-girdle muscular dystrophy type 2C1 test
Autosomal recessive limb-girdle muscular dystrophy type 2D2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2I1 test
Autosomal recessive limb-girdle muscular dystrophy type 2M1 test
Autosomal recessive nonsyndromic hearing loss 18A1 test
Autosomal recessive nonsyndromic hearing loss 1A2 tests
Autosomal recessive nonsyndromic hearing loss 21 test
Autosomal recessive nonsyndromic hearing loss 231 test
Autosomal recessive osteopetrosis 11 test
Autosomal recessive polycystic kidney disease2 tests
BAP1-related tumor predisposition syndrome2 tests
Bardet-Biedl syndrome 12 tests
Bardet-Biedl syndrome 102 tests
Bardet-Biedl syndrome 121 test
Bardet-Biedl syndrome 131 test
Bardet-Biedl syndrome 21 test
Becker muscular dystrophy1 test
Bifunctional peroxisomal enzyme deficiency2 tests
Biotinidase deficiency2 tests
Birt-Hogg-Dube syndrome2 tests
Bloom syndrome2 tests
Breast neoplasm4 tests
Breast-ovarian cancer, familial, susceptibility to, 11 test
Carcinoma of colon1 test
Carnitine palmitoyl transferase 1A deficiency2 tests
Carnitine palmitoyltransferase II deficiency2 tests
Ceroid lipofuscinosis, neuronal, 6A1 test
Cetuximab response1 test
Charlevoix-Saguenay spastic ataxia2 tests
Cholestanol storage disease1 test
Choroideremia1 test
Chromosome 1p36 deletion syndrome1 test
Citrullinemia type I2 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Classic homocystinuria2 tests
Cobalamin C disease1 test
Cockayne syndrome type 11 test
Cockayne syndrome type 21 test
Cohen syndrome2 tests
Colorectal carcinoma1 test
Complete trisomy 13 syndrome1 test
Complete trisomy 20 syndrome1 test
Complete trisomy 21 syndrome1 test
Congenital adrenal hyperplasia2 tests
Congenital adrenal hypoplasia, X-linked1 test
Congenital hyperammonemia, type I1 test
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1 test
Congenital lipoid adrenal hyperplasia due to STAR deficency1 test
Cutis laxa, X-linked1 test
Cystic fibrosis3 tests
Cystinosis1 test
Dabrafenib response1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase2 tests
Deficiency of alpha-mannosidase2 tests
Deficiency of butyryl-CoA dehydrogenase2 tests
Deficiency of butyrylcholinesterase1 test
Deficiency of galactokinase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase1 test
Deficiency of steroid 11-beta-monooxygenase1 test
Diastrophic dysplasia1 test
Dihydropyrimidine dehydrogenase deficiency1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 3B1 test
Distal monosomy 10p1 test
Double Y syndrome1 test
Duchenne muscular dystrophy1 test
Dyskeratosis congenita, autosomal recessive 51 test
EGFR inhibitors response1 test
EGFR-related lung cancer2 tests
Ellis-van Creveld syndrome2 tests
Endometrial carcinoma2 tests
Erlotinib response1 test
Fabry disease1 test
Factor V deficiency1 test
Familial Mediterranean fever2 tests
Familial adenomatous polyposis 13 tests
Familial adenomatous polyposis 22 tests
Familial cancer of breast1 test
Familial colorectal cancer2 tests
Familial dysautonomia2 tests
Familial hyperinsulinism1 test
Familial idiopathic steroid-resistant nephrotic syndrome1 test
Familial isolated deficiency of vitamin E2 tests
Familial medullary thyroid carcinoma2 tests
Familial melanoma2 tests
Familial pancreatic carcinoma2 tests
Familial prostate carcinoma2 tests
Fanconi anemia complementation group A1 test
Fanconi anemia complementation group C2 tests
Finnish congenital nephrotic syndrome2 tests
Fragile X syndrome2 tests
Fulvestrant response1 test
GM1 gangliosidosis type 21 test
GM1 gangliosidosis type 31 test
GNE myopathy2 tests
GNPTG-mucolipidosis1 test
GRACILE syndrome2 tests
Galactosylceramide beta-galactosidase deficiency2 tests
Gaucher disease1 test
Gaucher disease perinatal lethal1 test
Gaucher disease type II1 test
Gaucher disease type III1 test
Gefitinib response1 test
Glucose-6-phosphate transport defect2 tests
Glutaric aciduria, type 12 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2 tests
Glycogen storage disease type III2 tests
Glycogen storage disease, type II2 tests
Glycogen storage disease, type V1 test
Hb SS disease2 tests
Hemoglobin H disease, nondeletional1 test
Hereditary Paraganglioma-Pheochromacytoma Syndrome1 test
Hereditary breast ovarian cancer syndrome4 tests
Hereditary diffuse gastric adenocarcinoma2 tests
Hereditary factor XI deficiency disease1 test
Hereditary fructosuria2 tests
Hereditary hemochromatosis1 test
Hereditary leiomyomatosis and renal cell cancer2 tests
Hereditary nonpolyposis colon cancer3 tests
Hereditary papillary renal cell carcinoma2 tests
Hereditary pheochromocytoma-paraganglioma1 test
Hereditary spastic paraplegia 151 test
Holocarboxylase synthetase deficiency1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Hurler syndrome1 test
Hydrolethalus syndrome1 test
Hyperinsulinemic hypoglycemia, familial, 12 tests
Hypophosphatasia2 tests
Infantile GM1 gangliosidosis1 test
Isovaleryl-CoA dehydrogenase deficiency2 tests
Joubert syndrome 22 tests
Junctional epidermolysis bullosa gravis of Herlitz4 tests
Junctional epidermolysis bullosa, non-Herlitz type3 tests
Juvenile polyposis syndrome2 tests
Juvenile retinoschisis2 tests
Klinefelter syndrome1 test
Lapatinib response1 test
Li-Fraumeni syndrome2 tests
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
Lysosomal acid lipase deficiency1 test
MPI-congenital disorder of glycosylation2 tests
Malignant tumor of breast1 test
Malignant tumor of prostate1 test
Maple syrup urine disease type 1A1 test
Maple syrup urine disease type 1B2 tests
Maple syrup urine disease type 21 test
Meckel-Gruber syndrome1 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
Megalencephalic leukoencephalopathy with subcortical cysts2 tests
Megalencephalic leukoencephalopathy with subcortical cysts 11 test
Melanoma-pancreatic cancer syndrome2 tests
Menkes kinky-hair syndrome1 test
Merosin deficient congenital muscular dystrophy2 tests
Metachromatic leukodystrophy2 tests
Metaphyseal chondrodysplasia, McKusick type2 tests
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
Methylmalonic aciduria, cblA type1 test
Methylmalonic aciduria, cblB type1 test
Microcephaly, normal intelligence and immunodeficiency2 tests
Mitochondrial trifunctional protein deficiency1 test
Miyoshi muscular dystrophy 11 test
Mosaic trisomy 11 test
Mosaic trisomy 21 test
Mosaic trisomy 31 test
Motor axonal neuropathy1 test
Mucolipidosis type II1 test
Mucolipidosis type IV2 tests
Mucopolysaccharidosis type 11 test
Mucopolysaccharidosis, MPS-II1 test
Mucopolysaccharidosis, MPS-III-A1 test
Mucopolysaccharidosis, MPS-III-B1 test
Mucopolysaccharidosis, MPS-III-C1 test
Mucopolysaccharidosis, MPS-IV-B1 test
Multiple endocrine neoplasia1 test
Multiple endocrine neoplasia, type 11 test
Multiple endocrine neoplasia, type 21 test
Multiple epiphyseal dysplasia type 41 test
Muscle eye brain disease4 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
Nemaline myopathy 22 tests
Nephropathic cystinosis1 test
Nephrotic syndrome, type 21 test
Neuronal ceroid lipofuscinosis 12 tests
Neuronal ceroid lipofuscinosis 22 tests
Neuronal ceroid lipofuscinosis 32 tests
Neuronal ceroid lipofuscinosis 52 tests
Neuronal ceroid lipofuscinosis 81 test
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant2 tests
Neuronopathy, distal hereditary motor, autosomal recessive 31 test
Neuronopathy, distal hereditary motor, autosomal recessive 41 test
Neuronopathy, distal hereditary motor, autosomal recessive 51 test
Niemann-Pick disease, type A2 tests
Niemann-Pick disease, type B2 tests
Niemann-Pick disease, type C1 test
Niemann-Pick disease, type C11 test
Niemann-Pick disease, type C21 test
Non-ketotic hyperglycinemia2 tests
Olaparib response2 tests
Ornithine carbamoyltransferase deficiency1 test
Ovarian cancer1 test
Ovarian epithelial cancer1 test
Ovarian neoplasm1 test
PMM2-congenital disorder of glycosylation2 tests
PTEN hamartoma tumor syndrome2 tests
Pancreatic cancer, adult1 test
Panitumumab response1 test
Pearson syndrome1 test
Pemigatinib response1 test
Pendred syndrome2 tests
Peroxisome biogenesis disorder1 test
Peroxisome biogenesis disorder 1A (Zellweger)2 tests
Peroxisome biogenesis disorder 1B1 test
Peroxisome biogenesis disorder 3A (Zellweger)1 test
Peroxisome biogenesis disorder 4A (Zellweger)1 test
Peroxisome biogenesis disorder 4B1 test
Peroxisome biogenesis disorder 5A (Zellweger)1 test
Peroxisome biogenesis disorder 5B1 test
Peroxisome biogenesis disorder 6A (Zellweger)1 test
Peroxisome biogenesis disorder 6B1 test
Peroxisome biogenesis disorder 9B1 test
Pertuzumab response1 test
Peutz-Jeghers syndrome2 tests
Phenylketonuria2 tests
Phytanic acid storage disease1 test
Pituitary hormone deficiency, combined, 22 tests
Polyglandular autoimmune syndrome, type 12 tests
Polymerase proofreading-related adenomatous polyposis2 tests
Polyposis syndrome, hereditary mixed, 12 tests
Prader-Willi syndrome1 test
Primary hyperoxaluria type 31 test
Primary hyperoxaluria, type I2 tests
Primary hyperoxaluria, type II2 tests
Propionic acidemia2 tests
Prostate cancer, somatic1 test
Pseudo-Hurler polydystrophy1 test
Pyknodysostosis2 tests
Pyruvate carboxylase deficiency1 test
Pyruvate dehydrogenase E3 deficiency2 tests
Qualitative or quantitative defects of beta-sarcoglycan1 test
Qualitative or quantitative defects of delta-sarcoglycan1 test
Qualitative or quantitative defects of dysferlin1 test
Qualitative or quantitative defects of dystrophin1 test
Renal carnitine transport defect2 tests
Retinitis pigmentosa 391 test
Rhizomelic chondrodysplasia punctata type 12 tests
Salla disease2 tests
Sandhoff disease1 test
Severe X-linked myotubular myopathy1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1 test
Sjögren-Larsson syndrome2 tests
Smith-Lemli-Opitz syndrome2 tests
Spinal muscular atrophy2 tests
Spondylocostal dysostosis1 test
Spondylocostal dysostosis 1, autosomal recessive1 test
Spondylocostal dysostosis 2, autosomal recessive1 test
Spongy degeneration of central nervous system2 tests
Sulfate transporter-related osteochondrodysplasia2 tests
Tay-Sachs disease2 tests
Thrombophilia1 test
Thrombophilia due to activated protein C resistance1 test
Trastuzumab emtansine response1 test
Trastuzumab response1 test
Trisomy 11 mosaicism1 test
Trisomy 181 test
Trisomy 61 test
Trisomy 81 test
Trisomy 91 test
Trisomy X syndrome1 test
Tuberous sclerosis syndrome2 tests
Turner syndrome1 test
Tyrosinemia type I2 tests
Tyrosinemia type II1 test
Usher syndrome type 11 test
Usher syndrome type 1C1 test
Usher syndrome type 1F2 tests
Usher syndrome type 2A1 test
Usher syndrome type 32 tests
Vemurafenib response1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
Von Hippel-Lindau syndrome2 tests
Walker-Warburg congenital muscular dystrophy3 tests
Wilson disease2 tests
Wolman disease1 test
X-linked Alport syndrome1 test
X-linked severe combined immunodeficiency1 test
Xeroderma pigmentosum group A1 test
Xeroderma pigmentosum, group C1 test
alpha Thalassemia1 test
beta Thalassemia2 tests