U.S. flag

An official website of the United States government

Myriad Women's Health, Inc., MWH

General information

Myriad Women's Health, Inc., MWH

180 Kimball Way
South San Francisco
California
United States - 94080
https://myriadwomenshealth.com/
Organization ID: 507240

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1700

Gene

GeneSubmissionsLast Updated
ABCC811Jan 15, 2022
ABCD11Jan 15, 2022
ACADM7Jan 15, 2022
ACADS1Jun 18, 2020
ACADVL17Jan 15, 2022
ACYP11Jan 15, 2022
ADA6Jan 15, 2022
ADAMTS21Jun 18, 2020
AGA2Jan 15, 2022
AGL28Jan 15, 2022
AGXT11Jan 15, 2022
AIRE7Oct 30, 2020
ALDH3A29Oct 30, 2020
ALDOB11Jan 15, 2022
ALG63Jan 15, 2022
ALPL6Jan 15, 2022
AMT2Jan 15, 2022
AOPEP7Jan 15, 2022
APBB12Jan 15, 2020
ARG12Jan 15, 2022
ARSA10Jan 15, 2022
ASL14Jan 15, 2022
ASPA8Jan 15, 2022
ASS14Jan 15, 2022
ATP7B30Jan 15, 2022
AXDND12Jun 18, 2020
BBS111Jan 15, 2022
BBS104Jan 15, 2022
BBS215Jan 15, 2022
BCHE2Jan 15, 2022
BCKDHA8Jan 15, 2022
BCKDHB10Jan 15, 2022
BCS1L4Jan 15, 2022
BLM5Jan 15, 2022
BTD8Jan 15, 2022
CAPN315Jan 15, 2022
CARD141Jun 18, 2020
CBS14Jan 15, 2022
CCDC1071Jun 18, 2020
CDKL51Jun 18, 2020
CFTR109Oct 30, 2020
CFTR-AS112Oct 30, 2020
CLN34Jan 15, 2022
CLN51Jun 18, 2020
CLN64Jan 15, 2022
CLN82Jan 15, 2022
CLRN12Jan 15, 2022
CLRN1-AS11Jun 18, 2020
CNGB32Jan 15, 2022
COL4A329Jan 15, 2022
COL4A422Jan 15, 2022
COL4A524Oct 30, 2020
CPS128Jan 15, 2022
CPT1A1Jan 15, 2022
CPT25Jan 15, 2022
CTNS4Oct 30, 2020
CTNS-AS13Oct 30, 2020
CYP11B14Jan 15, 2022
CYP21A28Jun 18, 2020
CYP27A113Jan 15, 2022
DBT10Oct 30, 2020
DHCR716Oct 30, 2020
DHDDS1Jun 18, 2020
DLD10Oct 30, 2020
DMD38Oct 30, 2020
DNAH51Jan 15, 2022
DYSF44Jan 15, 2022
ELP12Jun 18, 2020
ERCC624Jan 15, 2022
ERCC6-PGBD31Oct 30, 2020
ERCC89Jan 15, 2022
ERCC8-AS11Oct 30, 2020
EVC1Jan 15, 2022
EVC22Jan 15, 2022
F112Jan 15, 2022
FAH12Jan 15, 2022
FANCA34Jan 15, 2022
FANCC13Jan 15, 2022
FBXL31Jun 18, 2020
FKRP1Jun 18, 2020
FKTN1Jun 18, 2020
G6PC19Jan 15, 2022
GAA21Jan 15, 2022
GALC7Jan 15, 2022
GALK17Jan 15, 2022
GALT22Jan 15, 2022
GAREM23Oct 30, 2020
GATAD11Jan 15, 2022
GBA19Jun 18, 2020
GBE11Jan 15, 2020
GCDH14Jan 15, 2022
GJB222Jan 15, 2022
GLB16Jan 15, 2022
GLDC30Jan 15, 2022
GNE13Jan 15, 2022
GNPTAB27Jan 15, 2022
GNPTG2Jan 15, 2022
GRHPR6Jan 15, 2022
HADHA13Oct 30, 2020
HBA21Jun 18, 2020
HBB27Jun 18, 2020
HEXA23Jan 15, 2022
HEXA-AS11Jan 15, 2020
HEXB11Oct 30, 2020
HFE2Jun 18, 2020
HFE-AS11Jun 18, 2020
HGSNAT18Jan 15, 2022
HLCS14Jan 15, 2022
HMGCL7Jan 15, 2022
HOGA14Jan 15, 2022
HPS31Jan 15, 2022
HSD17B44Jan 15, 2022
HYLS11Jan 15, 2020
IDUA11Jan 15, 2022
IVD2Jan 15, 2022
KIRREL23Jan 15, 2022
LAMA275Jan 15, 2022
LAMA32Jan 15, 2022
LAMB324Jan 15, 2022
LAMC214Oct 30, 2020
LIPA6Jan 15, 2022
LOC10609906222Jun 18, 2020
LOC1066279817Jun 18, 2020
LOC1067808008Jun 18, 2020
LOC1067998334Jan 15, 2022
LOC1068046121Jun 18, 2020
LOC10713351027Jun 18, 2020
LOC1100063196Jun 18, 2020
LOC1116744728Oct 30, 2020
LOC1116744759Jun 18, 2020
LOC1124862231Jan 15, 2022
LOC1136338771Jun 18, 2020
LOC1136641061Jun 18, 2020
LOC1221522961Jan 15, 2022
LOC1238640651Oct 30, 2020
LOC1239562102Jan 15, 2022
LOXHD11Jan 15, 2022
MAN2B125Jan 15, 2022
MCOLN12Jan 15, 2022
MED231Jan 15, 2022
MEFV5Jun 18, 2020
MFF-DT29Jan 15, 2022
MKS11Jan 15, 2020
MLC112Jan 15, 2022
MMAA2Oct 30, 2020
MMAB3Jan 15, 2022
MMACHC4Jan 15, 2022
MMUT17Jan 15, 2022
MPL13Oct 30, 2020
MTHFR1Jan 15, 2020
MTM18Oct 30, 2020
MTTP17Oct 30, 2020
MYO7A57Jan 15, 2022
NAGLU4Jan 15, 2022
NDUFAF21Jun 18, 2020
NEB6Jan 15, 2022
NICN11Jan 15, 2022
NPC126Jan 15, 2022
NPC26Jan 15, 2022
NPHS110Jan 15, 2022
NPHS25Jan 15, 2022
NR2E32Jan 15, 2022
OPA31Jun 18, 2020
PAH30Jan 15, 2022
PCCA2Jan 15, 2022
PCCB2Jan 15, 2022
PCDH157Jan 15, 2022
PEX15Jan 15, 2022
PEX123Jan 15, 2022
PEX21Jun 18, 2020
PEX75Jan 15, 2022
PFKM1Jan 15, 2022
PKHD116Jan 15, 2022
PMM215Jan 15, 2022
POMGNT16Jan 15, 2022
PPT13Jun 18, 2020
PROP12Jun 18, 2020
PUS31Jan 15, 2020
RIF11Jan 15, 2022
RMRP1Jun 18, 2020
RS11Jun 18, 2020
SACS3Jan 15, 2022
SERPINA12Jan 15, 2022
SGCA6Jan 15, 2022
SGCB2Jun 18, 2020
SGCG1Jan 15, 2022
SGSH5Jan 15, 2022
SLC12A62Jun 18, 2020
SLC17A51Jun 18, 2020
SLC22A57Jan 15, 2022
SLC26A11Jun 18, 2020
SLC26A217Jan 15, 2022
SLC26A425Jan 15, 2022
SLC26A4-AS13Jan 15, 2022
SLC37A44Jan 15, 2022
SMPD18Jan 15, 2022
SPATA228Jan 15, 2022
STAR3Jan 15, 2022
SYCE22Jan 15, 2022
TCIRG12Jan 15, 2022
TGM15Jan 15, 2022
TH2Jan 15, 2022
TMEM2161Jun 18, 2020
TNXB2Jun 18, 2020
TPP13Jun 18, 2020
TSPAN16Jan 15, 2022
TTPA3Jan 15, 2022
USH1C4Jan 15, 2022
USH2A31Jan 15, 2022
USH2A-AS22Jan 15, 2022
VPS13B4Jan 15, 2022
XPA1Jan 15, 2022
XPC3Jan 15, 2022
ZDHHC246Jan 15, 2022
ZFYVE262Jan 15, 2022
ZNF2762Jan 15, 2022

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 31Jun 18, 2020
3MC syndrome 24Jan 15, 2020
Abetalipoproteinaemia17Oct 30, 2020
Achondrogenesis, type IB5Jan 15, 2022
Achromatopsia 32Jan 15, 2022
Adrenoleukodystrophy1Jan 15, 2022
Adult hypophosphatasia3Jan 15, 2022
Adult neuronal ceroid lipofuscinosis3Oct 30, 2020
Agenesis of the corpus callosum with peripheral neuropathy2Jun 18, 2020
Alpha-1-antitrypsin deficiency2Jan 15, 2022
Arginase deficiency2Jan 15, 2022
Argininosuccinate lyase deficiency14Jan 15, 2022
Aspartylglucosaminuria2Jan 15, 2022
Atelosteogenesis type II1Jan 15, 2022
Autosomal recessive Alport syndrome51Jan 15, 2022
Autosomal recessive DOPA responsive dystonia2Jan 15, 2022
Autosomal recessive congenital ichthyosis 15Jan 15, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2A15Jan 15, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2B44Jan 15, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2D6Jan 15, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2E1Jun 18, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2I1Jun 18, 2020
Autosomal recessive nonsyndromic hearing loss 1A22Jan 15, 2022
Autosomal recessive nonsyndromic hearing loss 771Jan 15, 2022
Autosomal recessive osteopetrosis 12Jan 15, 2022
Autosomal recessive polycystic kidney disease6Jun 18, 2020
Bardet-Biedl syndrome 111Jan 15, 2022
Bardet-Biedl syndrome 104Jan 15, 2022
Bardet-Biedl syndrome 215Jan 15, 2022
Becker muscular dystrophy38Oct 30, 2020
Bifunctional peroxisomal enzyme deficiency4Jan 15, 2022
Biotinidase deficiency8Jan 15, 2022
Bloom syndrome5Jan 15, 2022
Carnitine palmitoyl transferase 1A deficiency1Jan 15, 2022
Carnitine palmitoyl transferase II deficiency, myopathic form2Jan 15, 2022
Carnitine palmitoyl transferase II deficiency, neonatal form2Jan 15, 2022
Carnitine palmitoyl transferase II deficiency, severe infantile form5Jan 15, 2022
Ceroid lipofuscinosis, neuronal, 6A4Jan 15, 2022
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)1Jan 15, 2022
Charlevoix-Saguenay spastic ataxia3Jan 15, 2022
Childhood hypophosphatasia3Jan 15, 2022
Cholestanol storage disease13Jan 15, 2022
Citrullinemia type I4Jan 15, 2022
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency8Jun 18, 2020
Classic homocystinuria14Jan 15, 2022
Cobalamin C disease4Jan 15, 2022
Cockayne syndrome type 19Jan 15, 2022
Cockayne syndrome type 224Jan 15, 2022
Cohen syndrome4Jan 15, 2022
Congenital amegakaryocytic thrombocytopenia13Oct 30, 2020
Congenital disorder of glycosylation type 1C3Jan 15, 2022
Congenital hyperammonemia, type I28Jan 15, 2022
Congenital lipoid adrenal hyperplasia due to STAR deficency3Jan 15, 2022
Cystic fibrosis109Oct 30, 2020
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase22Jan 15, 2022
Deficiency of alpha-mannosidase25Jan 15, 2022
Deficiency of butyryl-CoA dehydrogenase1Jun 18, 2020
Deficiency of butyrylcholinesterase2Jan 15, 2022
Deficiency of galactokinase7Jan 15, 2022
Deficiency of hydroxymethylglutaryl-CoA lyase7Jan 15, 2022
Deficiency of steroid 11-beta-monooxygenase4Jan 15, 2022
Diastrophic dysplasia5Jan 15, 2022
Distal myopathy with anterior tibial onset44Jan 15, 2022
Duchenne muscular dystrophy38Oct 30, 2020
Ehlers-Danlos syndrome, dermatosparaxis type1Jun 18, 2020
Ellis-van Creveld syndrome3Jan 15, 2022
Enhanced S-cone syndrome2Jan 15, 2022
Familial Mediterranean fever5Jun 18, 2020
Familial dysautonomia2Jun 18, 2020
Familial isolated deficiency of vitamin E3Jan 15, 2022
Fanconi anemia complementation group A34Jan 15, 2022
Fanconi anemia complementation group C13Jan 15, 2022
Finnish congenital nephrotic syndrome10Jan 15, 2022
GM1 gangliosidosis type 26Jan 15, 2022
GM1 gangliosidosis type 36Jan 15, 2022
GNE myopathy13Jan 15, 2022
GRACILE syndrome4Jan 15, 2022
Galactosylceramide beta-galactosidase deficiency7Jan 15, 2022
Gaucher disease type I9Jun 18, 2020
Glucose-6-phosphate transport defect4Jan 15, 2022
Glutaric aciduria, type 114Jan 15, 2022
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA9Jan 15, 2022
Glycogen storage disease type III28Jan 15, 2022
Glycogen storage disease, type II21Jan 15, 2022
Glycogen storage disease, type IV1Jan 15, 2020
Glycogen storage disease, type VII1Jan 15, 2022
Hemochromatosis type 12Jun 18, 2020
Hereditary factor XI deficiency disease2Jan 15, 2022
Hereditary fructosuria11Jan 15, 2022
Hereditary spastic paraplegia 152Jan 15, 2022
Hermansky-Pudlak syndrome 31Jan 15, 2022
Holocarboxylase synthetase deficiency14Jan 15, 2022
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1Jan 15, 2020
Hurler syndrome2Jun 18, 2020
Hydrolethalus syndrome 11Jan 15, 2020
Hyperinsulinemic hypoglycemia, familial, 111Jan 15, 2022
Infantile GM1 gangliosidosis6Jan 15, 2022
Infantile hypophosphatasia6Jan 15, 2022
Isovaleryl-CoA dehydrogenase deficiency2Jan 15, 2022
Joubert syndrome 21Jun 18, 2020
Junctional epidermolysis bullosa gravis of Herlitz40Jan 15, 2022
Junctional epidermolysis bullosa, non-Herlitz type2Jan 15, 2022
Juvenile nephropathic cystinosis2Oct 30, 2020
Juvenile retinoschisis1Jun 18, 2020
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency13Oct 30, 2020
Lysosomal acid lipase deficiency6Jan 15, 2022
Maple syrup urine disease28Jan 15, 2022
Meckel syndrome, type 11Jan 15, 2020
Medium-chain acyl-coenzyme A dehydrogenase deficiency7Jan 15, 2022
Megalencephalic leukoencephalopathy with subcortical cysts 112Jan 15, 2022
Merosin deficient congenital muscular dystrophy75Jan 15, 2022
Metachromatic leukodystrophy10Jan 15, 2022
Metaphyseal chondrodysplasia, McKusick type1Jun 18, 2020
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency17Jan 15, 2022
Methylmalonic aciduria, cblA type2Oct 30, 2020
Methylmalonic aciduria, cblB type3Jan 15, 2022
Mitochondrial complex III deficiency nuclear type 12Jan 15, 2022
Mitochondrial trifunctional protein deficiency12Oct 30, 2020
Miyoshi muscular dystrophy 144Jan 15, 2022
Mucolipidosis type II26Jan 15, 2022
Mucolipidosis type III gamma2Jan 15, 2022
Mucolipidosis type IV2Jan 15, 2022
Mucopolysaccharidosis, MPS-I-H/S9Jan 15, 2022
Mucopolysaccharidosis, MPS-III-A5Jan 15, 2022
Mucopolysaccharidosis, MPS-III-B4Jan 15, 2022
Mucopolysaccharidosis, MPS-III-C18Jan 15, 2022
Multiple epiphyseal dysplasia type 44Jun 18, 2020
Muscular dystrophy, limb-girdle, autosomal recessive 2375Jan 15, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41Jun 18, 2020
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A35Jan 15, 2022
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B31Jan 15, 2020
Nemaline myopathy 26Jan 15, 2022
Nephropathic cystinosis4Oct 30, 2020
Nephrotic syndrome, type 25Jan 15, 2022
Neuronal ceroid lipofuscinosis 13Jun 18, 2020
Neuronal ceroid lipofuscinosis 23Jun 18, 2020
Neuronal ceroid lipofuscinosis 34Jan 15, 2022
Neuronal ceroid lipofuscinosis 51Jun 18, 2020
Neuronal ceroid lipofuscinosis 82Jan 15, 2022
Niemann-Pick disease, type A8Jan 15, 2022
Niemann-Pick disease, type B4Jan 15, 2022
Niemann-Pick disease, type C126Jan 15, 2022
Niemann-Pick disease, type C26Jan 15, 2022
Non-ketotic hyperglycinemia32Jan 15, 2022
Ocular cystinosis2Oct 30, 2020
PMM2-CDG15Jan 15, 2022
Pendred syndrome25Jan 15, 2022
Peroxisome biogenesis disorder 1A (Zellweger)4Jan 15, 2022
Peroxisome biogenesis disorder 1B3Jan 15, 2022
Peroxisome biogenesis disorder 3A (Zellweger)2Jan 15, 2022
Peroxisome biogenesis disorder 5A (Zellweger)1Jun 18, 2020
Peroxisome biogenesis disorder type 3B1Jun 18, 2020
Perrault syndrome 12Jan 15, 2022
Phenylketonuria30Jan 15, 2022
Pili torti-deafness syndrome2Jan 15, 2022
Pituitary hormone deficiency, combined, 22Jun 18, 2020
Polycystic kidney disease 410Jan 15, 2022
Polyglandular autoimmune syndrome, type 17Oct 30, 2020
Primary ciliary dyskinesia 31Jan 15, 2022
Primary hyperoxaluria type 34Jan 15, 2022
Primary hyperoxaluria, type I11Jan 15, 2022
Primary hyperoxaluria, type II6Jan 15, 2022
Propionic acidemia4Jan 15, 2022
Pseudo-Hurler polydystrophy27Jan 15, 2022
Pyruvate dehydrogenase E3 deficiency10Oct 30, 2020
Renal carnitine transport defect7Jan 15, 2022
Retinitis pigmentosa 371Jan 15, 2022
Retinitis pigmentosa 591Jun 18, 2020
Rhizomelic chondrodysplasia punctata type 15Jan 15, 2022
Salla disease1Jun 18, 2020
Sandhoff disease11Oct 30, 2020
Severe X-linked myotubular myopathy8Oct 30, 2020
Severe autosomal recessive muscular dystrophy of childhood - North African type1Jan 15, 2022
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency6Jan 15, 2022
Sjögren-Larsson syndrome9Oct 30, 2020
Smith-Lemli-Opitz syndrome16Oct 30, 2020
Spongy degeneration of central nervous system8Jan 15, 2022
Tay-Sachs disease23Jan 15, 2022
Tyrosinemia type I12Jan 15, 2022
Usher syndrome type 157Jan 15, 2022
Usher syndrome type 1C4Jan 15, 2022
Usher syndrome type 1D7Jan 15, 2022
Usher syndrome type 2A31Jan 15, 2022
Usher syndrome type 31Jun 18, 2020
Usher syndrome type 3A1Jan 15, 2022
Very long chain acyl-CoA dehydrogenase deficiency17Jan 15, 2022
Wilson disease30Jan 15, 2022
X-linked Alport syndrome24Oct 30, 2020
Xeroderma pigmentosum group A1Jan 15, 2022
Xeroderma pigmentosum, group C3Jan 15, 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
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 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 lower motor neuron disease with childhood onset1 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
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
Bloom syndrome2 tests
Carnitine palmitoyl transferase 1A deficiency2 tests
Carnitine palmitoyltransferase II deficiency2 tests
Ceroid lipofuscinosis, neuronal, 6A1 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
Complete trisomy 13 syndrome1 test
Complete trisomy 18 syndrome1 test
Complete trisomy 20 syndrome1 test
Complete trisomy 21 syndrome1 test
Congenital adrenal hyperplasia2 tests
Congenital adrenal hypoplasia, X-linked1 test
Congenital disorder of glycosylation type 1C1 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
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
Distal spinal muscular atrophy type 31 test
Double Y syndrome1 test
Duchenne muscular dystrophy1 test
Dyskeratosis congenita, autosomal recessive 51 test
Ellis-van Creveld syndrome2 tests
Fabry disease1 test
Factor V deficiency1 test
Familial Mediterranean fever2 tests
Familial dysautonomia2 tests
Familial hyperinsulinism1 test
Familial idiopathic steroid-resistant nephrotic syndrome1 test
Familial isolated deficiency of vitamin E2 tests
Fanconi anemia complementation group A1 test
Fanconi anemia complementation group C2 tests
Finnish congenital nephrotic syndrome2 tests
Fragile X syndrome2 tests
GM1 gangliosidosis type 21 test
GM1 gangliosidosis type 31 test
GNE myopathy2 tests
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
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 factor XI deficiency disease1 test
Hereditary fructosuria2 tests
Hereditary hemochromatosis1 test
Hereditary spastic paraplegia 151 test
Holocarboxylase synthetase deficiency1 test
Homocystinuria due to MTHFR 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 retinoschisis2 tests
Klinefelter syndrome1 test
Lipoamide dehydrogenase deficiency1 test
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
Lysosomal acid lipase deficiency1 test
MPI-CDG2 tests
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
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 III gamma1 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 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
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
Ornithine carbamoyltransferase deficiency1 test
Osteochondrodysplasia2 tests
PMM2-CDG2 tests
Pearson syndrome1 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
Phenylketonuria2 tests
Phytanic acid storage disease1 test
Pituitary hormone deficiency, combined, 22 tests
Polyglandular autoimmune syndrome, type 12 tests
Prader-Willi syndrome1 test
Primary hyperoxaluria type 31 test
Primary hyperoxaluria, type I2 tests
Primary hyperoxaluria, type II2 tests
Propionic acidemia2 tests
Pseudo-Hurler polydystrophy1 test
Pyknodysostosis2 tests
Pyruvate carboxylase deficiency1 test
Pyruvate dehydrogenase E3 deficiency1 test
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 autosomal recessive muscular dystrophy of childhood - North African type1 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
Tay-Sachs disease2 tests
Thrombophilia1 test
Thrombophilia due to activated protein C resistance1 test
Trisomy 11 mosaicism1 test
Trisomy 61 test
Trisomy 81 test
Trisomy 91 test
Trisomy X syndrome1 test
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
Very long chain acyl-CoA dehydrogenase deficiency1 test
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
Young adult-onset distal hereditary motor neuropathy1 test
alpha Thalassemia1 test
beta Thalassemia2 tests
Support Center