Myriad Women's Health, Inc.

General information

Myriad Women's Health, Inc.

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

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1309

Gene

GeneSubmissionsLast Updated
ABCC82Jun 18, 2020
ACADM4Jun 18, 2020
ACADS1Jun 18, 2020
ACADVL1Jun 18, 2020
ADA4Oct 30, 2020
ADAMTS21Jun 18, 2020
AGA1Jun 18, 2020
AGL26Oct 30, 2020
AGXT9Oct 30, 2020
AIRE7Oct 30, 2020
ALDH3A29Oct 30, 2020
ALDOB7Oct 30, 2020
ALG61Jan 15, 2020
ALPL3Jun 18, 2020
AOPEP4Oct 30, 2020
APBB12Jan 15, 2020
ARSA6Jun 18, 2020
ASL9Oct 30, 2020
ASPA4Oct 30, 2020
ASS12Jun 18, 2020
ATP7B19Oct 30, 2020
AXDND12Jun 18, 2020
BBS19Oct 30, 2020
BBS101Jun 18, 2020
BBS211Oct 30, 2020
BCHE1Jun 18, 2020
BCKDHA5Oct 30, 2020
BCKDHB9Oct 30, 2020
BCS1L2Jun 18, 2020
BLM2Jun 18, 2020
BTD6Jun 18, 2020
CAPN312Oct 30, 2020
CARD141Jun 18, 2020
CBS9Oct 30, 2020
CCDC1071Jun 18, 2020
CDKL51Jun 18, 2020
CFTR109Oct 30, 2020
CFTR-AS112Oct 30, 2020
CLN31Oct 30, 2020
CLN51Jun 18, 2020
CLN63Oct 30, 2020
CLRN11Jun 18, 2020
CLRN1-AS11Jun 18, 2020
COL4A326Oct 30, 2020
COL4A419Oct 30, 2020
COL4A524Oct 30, 2020
CPS126Oct 30, 2020
CPT23Jun 18, 2020
CTNS4Oct 30, 2020
CYP11B13Oct 30, 2020
CYP21A28Jun 18, 2020
CYP27A110Oct 30, 2020
DBT10Oct 30, 2020
DHCR716Oct 30, 2020
DHDDS1Jun 18, 2020
DLD10Oct 30, 2020
DMD38Oct 30, 2020
DYSF40Oct 30, 2020
ELP12Jun 18, 2020
ERCC623Oct 30, 2020
ERCC6-PGBD31Oct 30, 2020
ERCC88Oct 30, 2020
ERCC8-AS11Oct 30, 2020
EVC21Jun 18, 2020
FAH11Oct 30, 2020
FANCA27Oct 30, 2020
FANCC11Oct 30, 2020
FBXL31Jun 18, 2020
FKRP1Jun 18, 2020
FKTN1Jun 18, 2020
G6PC17Jun 18, 2020
GAA13Oct 30, 2020
GALC3Jun 18, 2020
GALK16Oct 30, 2020
GALT15Oct 30, 2020
GAREM22Oct 30, 2020
GBA9Jun 18, 2020
GBE11Jan 15, 2020
GCDH11Oct 30, 2020
GJB216Jun 18, 2020
GLB14Oct 30, 2020
GLDC25Oct 30, 2020
GNE12Oct 30, 2020
GNPTAB25Oct 30, 2020
GRHPR5Oct 30, 2020
HADHA13Oct 30, 2020
HBA21Jun 18, 2020
HBB27Jun 18, 2020
HEXA18Oct 30, 2020
HEXA-AS11Jan 15, 2020
HEXB11Oct 30, 2020
HFE2Jun 18, 2020
HFE-AS11Jun 18, 2020
HGSNAT12Oct 30, 2020
HLCS13Oct 30, 2020
HMGCL5Oct 30, 2020
HOGA12Jun 18, 2020
HSD17B42Jun 18, 2020
HYLS11Jan 15, 2020
IDUA8Oct 30, 2020
IVD1Jun 18, 2020
LAMA269Oct 30, 2020
LAMA31Jun 18, 2020
LAMB322Oct 30, 2020
LAMC214Oct 30, 2020
LIPA5Oct 30, 2020
LOC10609906222Jun 18, 2020
LOC1066279817Jun 18, 2020
LOC1067808008Jun 18, 2020
LOC1067998333Oct 30, 2020
LOC1068046121Jun 18, 2020
LOC10713351027Jun 18, 2020
LOC1100063196Jun 18, 2020
LOC1116744728Oct 30, 2020
LOC1116744759Jun 18, 2020
LOC1136338771Jun 18, 2020
LOC1136641061Jun 18, 2020
MAN2B122Oct 30, 2020
MCOLN11Jun 18, 2020
MEFV5Jun 18, 2020
MFF-DT26Oct 30, 2020
MKS11Jan 15, 2020
MLC111Oct 30, 2020
MMAA2Oct 30, 2020
MMAB1Jun 18, 2020
MMACHC2Jun 18, 2020
MMUT15Oct 30, 2020
MPL13Oct 30, 2020
MTHFR1Jan 15, 2020
MTM18Oct 30, 2020
MTTP17Oct 30, 2020
MYO7A48Oct 30, 2020
NAGLU3Oct 30, 2020
NDUFAF21Jun 18, 2020
NPC121Oct 30, 2020
NPC25Oct 30, 2020
NPHS13Jun 18, 2020
NPHS24Jun 18, 2020
NR2E31Jan 15, 2020
OPA31Jun 18, 2020
PAH22Jun 18, 2020
PCCB1Jan 15, 2020
PCDH151Jan 15, 2020
PEX13Jun 18, 2020
PEX122Jun 18, 2020
PEX21Jun 18, 2020
PEX74Jun 18, 2020
PKHD16Jun 18, 2020
PMM27Jun 18, 2020
POMGNT11Jan 15, 2020
PPT13Jun 18, 2020
PROP12Jun 18, 2020
PUS31Jan 15, 2020
RMRP1Jun 18, 2020
RS11Jun 18, 2020
SACS1Jun 18, 2020
SERPINA11Jun 18, 2020
SGCA3Jun 18, 2020
SGCB2Jun 18, 2020
SGSH3Jun 18, 2020
SLC12A62Jun 18, 2020
SLC17A51Jun 18, 2020
SLC22A55Jun 18, 2020
SLC26A11Jun 18, 2020
SLC26A216Jun 18, 2020
SLC26A413Jun 18, 2020
SLC26A4-AS11Jun 18, 2020
SLC37A42Jun 18, 2020
SMPD14Jan 15, 2020
SPATA224Oct 30, 2020
TCIRG11Jan 15, 2020
TGM12Jun 18, 2020
TH1Jun 18, 2020
TMEM2161Jun 18, 2020
TNXB2Jun 18, 2020
TPP13Jun 18, 2020
TSPAN11Jan 15, 2020
TTPA2Jun 18, 2020
USH1C1Jan 15, 2020
USH2A5Jun 18, 2020
VPS13B1Jun 18, 2020
ZDHHC245Oct 30, 2020
ZNF2761Jun 18, 2020

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 31Jun 18, 2020
3MC syndrome 24Jan 15, 2020
Abetalipoproteinaemia17Oct 30, 2020
Achondrogenesis, type IB4Jun 18, 2020
Adult neuronal ceroid lipofuscinosis3Oct 30, 2020
Agenesis of the corpus callosum with peripheral neuropathy2Jun 18, 2020
Alpha-1-antitrypsin deficiency1Jun 18, 2020
Alport syndrome 1, X-linked recessive24Oct 30, 2020
Alport syndrome, autosomal recessive45Oct 30, 2020
Argininosuccinate lyase deficiency9Oct 30, 2020
Aspartylglucosaminuria1Jun 18, 2020
Autosomal recessive DOPA responsive dystonia1Jun 18, 2020
Autosomal recessive congenital ichthyosis 12Jun 18, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2B40Oct 30, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2D3Jun 18, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2E1Jun 18, 2020
Autosomal recessive osteopetrosis 11Jan 15, 2020
Autosomal recessive polycystic kidney disease6Jun 18, 2020
Bardet-Biedl syndrome 19Oct 30, 2020
Bardet-Biedl syndrome 101Jun 18, 2020
Bardet-Biedl syndrome 211Oct 30, 2020
Becker muscular dystrophy38Oct 30, 2020
Bifunctional peroxisomal enzyme deficiency2Jun 18, 2020
Biotinidase deficiency6Jun 18, 2020
Bloom syndrome2Jun 18, 2020
Carnitine palmitoyltransferase II deficiency, infantile3Jun 18, 2020
Ceroid lipofuscinosis neuronal 23Jun 18, 2020
Charlevoix-Saguenay spastic ataxia1Jun 18, 2020
Cholestanol storage disease10Oct 30, 2020
Citrullinemia type I2Jun 18, 2020
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency8Jun 18, 2020
Classic homocystinuria9Oct 30, 2020
Cobalamin C disease2Jun 18, 2020
Cockayne syndrome B23Oct 30, 2020
Cockayne syndrome type A8Oct 30, 2020
Cohen syndrome1Jun 18, 2020
Congenital amegakaryocytic thrombocytopenia13Oct 30, 2020
Congenital disorder of glycosylation type 1C1Jan 15, 2020
Congenital disorder of glycosylation, type Ia7Jun 18, 2020
Congenital hyperammonemia, type I26Oct 30, 2020
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B31Jan 15, 2020
Cystic fibrosis109Oct 30, 2020
Deafness, autosomal recessive 1A16Jun 18, 2020
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase15Oct 30, 2020
Deficiency of alpha-mannosidase22Oct 30, 2020
Deficiency of butyryl-CoA dehydrogenase1Jun 18, 2020
Deficiency of butyrylcholine esterase1Jun 18, 2020
Deficiency of galactokinase6Oct 30, 2020
Deficiency of hydroxymethylglutaryl-CoA lyase5Oct 30, 2020
Deficiency of steroid 11-beta-monooxygenase3Oct 30, 2020
Diastrophic dysplasia4Jun 18, 2020
Duchenne muscular dystrophy38Oct 30, 2020
Ehlers-Danlos syndrome dermatosparaxis type1Jun 18, 2020
Ellis-van Creveld syndrome1Jun 18, 2020
Enhanced S-cone syndrome1Jan 15, 2020
Familial Mediterranean fever5Jun 18, 2020
Familial dysautonomia2Jun 18, 2020
Familial isolated deficiency of vitamin E2Jun 18, 2020
Fanconi anemia, complementation group A27Oct 30, 2020
Fanconi anemia, complementation group C11Oct 30, 2020
Finnish congenital nephrotic syndrome3Jun 18, 2020
Fukuyama congenital muscular dystrophy1Jun 18, 2020
GM1 gangliosidosis type 24Oct 30, 2020
GM1 gangliosidosis type 34Oct 30, 2020
GNE myopathy12Oct 30, 2020
GRACILE syndrome2Jun 18, 2020
Galactosylceramide beta-galactosidase deficiency3Jun 18, 2020
Gaucher disease type I9Jun 18, 2020
Glucose-6-phosphate transport defect2Jun 18, 2020
Glutaric aciduria, type 111Oct 30, 2020
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA7Jun 18, 2020
Glycogen storage disease type III26Oct 30, 2020
Glycogen storage disease, type II13Oct 30, 2020
Glycogen storage disease, type IV1Jan 15, 2020
Hemochromatosis type 12Jun 18, 2020
Hereditary fructosuria7Oct 30, 2020
Holocarboxylase synthetase deficiency13Oct 30, 2020
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1Jan 15, 2020
Hurler syndrome2Jun 18, 2020
Hydrolethalus syndrome 11Jan 15, 2020
Hyperinsulinemic hypoglycemia, familial, 12Jun 18, 2020
Idiopathic nephrotic syndrome4Jun 18, 2020
Infantile GM1 gangliosidosis4Oct 30, 2020
Infantile Refsum disease1Jun 18, 2020
Infantile hypophosphatasia3Jun 18, 2020
Isovaleryl-CoA dehydrogenase deficiency1Jun 18, 2020
Joubert syndrome 21Jun 18, 2020
Junctional epidermolysis bullosa gravis of Herlitz37Oct 30, 2020
Juvenile nephropathic cystinosis2Oct 30, 2020
Juvenile retinoschisis1Jun 18, 2020
Limb-girdle muscular dystrophy, type 2A12Oct 30, 2020
Limb-girdle muscular dystrophy-dystroglycanopathy, type C51Jun 18, 2020
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency13Oct 30, 2020
Lysosomal acid lipase deficiency5Oct 30, 2020
Maple syrup urine disease24Oct 30, 2020
Maple syrup urine disease, type 310Oct 30, 2020
Meckel syndrome type 11Jan 15, 2020
Medium-chain acyl-coenzyme A dehydrogenase deficiency4Jun 18, 2020
Megalencephalic leukoencephalopathy with subcortical cysts 111Oct 30, 2020
Merosin deficient congenital muscular dystrophy69Oct 30, 2020
Metachromatic leukodystrophy6Jun 18, 2020
Metaphyseal chondrodysplasia, McKusick type1Jun 18, 2020
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency15Oct 30, 2020
Mitochondrial trifunctional protein deficiency12Oct 30, 2020
Miyoshi muscular dystrophy 139Oct 30, 2020
Mucolipidosis type II24Oct 30, 2020
Mucolipidosis type IV1Jun 18, 2020
Mucopolysaccharidosis, MPS-I-H/S6Oct 30, 2020
Mucopolysaccharidosis, MPS-III-A3Jun 18, 2020
Mucopolysaccharidosis, MPS-III-B3Oct 30, 2020
Mucopolysaccharidosis, MPS-III-C12Oct 30, 2020
Multiple epiphyseal dysplasia type 44Jun 18, 2020
Muscular dystrophy, limb-girdle, autosomal recessive 2369Oct 30, 2020
Myopathy, distal, with anterior tibial onset39Oct 30, 2020
Nephropathic cystinosis4Oct 30, 2020
Neuronal ceroid lipofuscinosis 13Jun 18, 2020
Neuronal ceroid lipofuscinosis 31Oct 30, 2020
Neuronal ceroid lipofuscinosis 51Jun 18, 2020
Neuronal ceroid lipofuscinosis 63Oct 30, 2020
Niemann-Pick disease type C121Oct 30, 2020
Niemann-Pick disease, type A4Jan 15, 2020
Niemann-Pick disease, type C25Oct 30, 2020
Non-ketotic hyperglycinemia25Oct 30, 2020
Ocular cystinosis2Oct 30, 2020
Pendred syndrome13Jun 18, 2020
Peroxisome biogenesis disorder 1A (Zellweger)2Jun 18, 2020
Peroxisome biogenesis disorder 1B1Jan 15, 2020
Peroxisome biogenesis disorder 3A1Jun 18, 2020
Peroxisome biogenesis disorder 5a (zellweger)1Jun 18, 2020
Phenylketonuria22Jun 18, 2020
Pituitary hormone deficiency, combined 22Jun 18, 2020
Polyglandular autoimmune syndrome, type 17Oct 30, 2020
Primary hyperoxaluria, type I9Oct 30, 2020
Primary hyperoxaluria, type II5Oct 30, 2020
Primary hyperoxaluria, type III2Jun 18, 2020
Propionic acidemia1Jan 15, 2020
Pseudo-Hurler polydystrophy25Oct 30, 2020
Renal carnitine transport defect5Jun 18, 2020
Retinitis pigmentosa 591Jun 18, 2020
Rhizomelic chondrodysplasia punctata type 14Jun 18, 2020
Salla disease1Jun 18, 2020
Sandhoff disease11Oct 30, 2020
Severe X-linked myotubular myopathy8Oct 30, 2020
Severe combined immunodeficiency due to ADA deficiency4Oct 30, 2020
Sjögren-Larsson syndrome9Oct 30, 2020
Smith-Lemli-Opitz syndrome16Oct 30, 2020
Spongy degeneration of central nervous system4Oct 30, 2020
Tay-Sachs disease18Oct 30, 2020
Tyrosinemia type I11Oct 30, 2020
Usher Syndrome, Type III1Jun 18, 2020
Usher syndrome type 148Oct 30, 2020
Usher syndrome type 1D1Jan 15, 2020
Usher syndrome, type 1C1Jan 15, 2020
Usher syndrome, type 2A5Jun 18, 2020
Very long chain acyl-CoA dehydrogenase deficiency1Jun 18, 2020
Vitamin B12-responsive methylmalonic acidemia type cblA2Oct 30, 2020
Vitamin B12-responsive methylmalonic acidemia type cblB1Jun 18, 2020
Wilson disease19Oct 30, 2020
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
Achondrogenesis, type IB1 test
Achromatopsia1 test
Adrenoleukodystrophy1 test
Agenesis of the corpus callosum with peripheral neuropathy2 tests
Alkaptonuria1 test
Alpha-1-antitrypsin deficiency1 test
Alport syndrome 1, X-linked recessive1 test
Alport syndrome, autosomal recessive2 tests
Alstrom syndrome1 test
Angelman syndrome1 test
Arginase deficiency1 test
Argininosuccinate lyase deficiency1 test
Aspartylglucosaminuria2 tests
Ataxia-telangiectasia syndrome2 tests
Autosomal recessive DOPA responsive dystonia2 tests
Autosomal recessive congenital ichthyosis 11 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 osteopetrosis 11 test
Autosomal recessive polycystic kidney disease2 tests
BH4-deficient hyperphenylalaninemia A1 test
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 palmitoyltransferase 1A deficiency2 tests
Carnitine palmitoyltransferase II deficiency2 tests
Ceroid lipofuscinosis neuronal 22 tests
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant2 tests
Charlevoix-Saguenay spastic ataxia2 tests
Cholestanol storage disease1 test
Cholesterol monooxygenase (side-chain cleaving) deficiency1 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 B1 test
Cockayne syndrome type A1 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 disorder of glycosylation, type Ia2 tests
Congenital hyperammonemia, type I1 test
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1 test
Cutis laxa, X-linked1 test
Cystic fibrosis3 tests
Cystinosis1 test
Deafness, autosomal dominant 111 test
Deafness, autosomal recessive 181 test
Deafness, autosomal recessive 1A2 tests
Deafness, autosomal recessive 21 test
Deafness, autosomal recessive 231 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase2 tests
Deficiency of alpha-mannosidase2 tests
Deficiency of butyryl-CoA dehydrogenase2 tests
Deficiency of butyrylcholine esterase1 test
Deficiency of galactokinase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase1 test
Deficiency of steroid 11-beta-monooxygenase1 test
DiGeorge syndrome/velocardiofacial syndrome complex 21 test
Diastrophic dysplasia1 test
Dihydropyrimidine dehydrogenase deficiency1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 3B1 test
Distal spinal muscular atrophy, autosomal recessive 21 test
Distal spinal muscular atrophy, autosomal recessive 31 test
Distal spinal muscular atrophy, autosomal recessive 41 test
Double Y syndrome1 test
Duchenne muscular dystrophy1 test
Dyskeratosis congenita, autosomal recessive, 51 test
Dystrophinopathies1 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
Fukuyama congenital muscular dystrophy1 test
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 type II1 test
Gaucher disease type III1 test
Gaucher disease, perinatal lethal1 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
Hypercoagulability1 test
Hyperinsulinemic hypoglycemia, familial, 12 tests
Hypophosphatasia2 tests
Idiopathic nephrotic syndrome1 test
Infantile GM1 gangliosidosis1 test
Isovaleryl-CoA dehydrogenase deficiency2 tests
Jarcho-Levin syndrome1 test
Joubert syndrome 22 tests
Junctional epidermolysis bullosa gravis of Herlitz4 tests
Junctional epidermolysis bullosa, non-Herlitz type3 tests
Juvenile retinoschisis2 tests
Klinefelter syndrome1 test
Limb-girdle muscular dystrophy, type 2A1 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C41 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C51 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
Maple syrup urine disease, type 31 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
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
Nemaline myopathy 22 tests
Nephropathic cystinosis1 test
Neuronal ceroid lipofuscinosis 12 tests
Neuronal ceroid lipofuscinosis 32 tests
Neuronal ceroid lipofuscinosis 52 tests
Neuronal ceroid lipofuscinosis 61 test
Neuronal ceroid lipofuscinosis 81 test
Niemann-Pick disease type C11 test
Niemann-Pick disease, type A2 tests
Niemann-Pick disease, type B2 tests
Niemann-Pick disease, type C1 test
Niemann-Pick disease, type C21 test
Non-ketotic hyperglycinemia2 tests
Ornithine carbamoyltransferase deficiency1 test
Osteochondrodysplasia2 tests
Pearson syndrome1 test
Pendred syndrome2 tests
Peroxisome biogenesis disorder 1A (Zellweger)2 tests
Peroxisome biogenesis disorder 1B1 test
Peroxisome biogenesis disorder 3A1 test
Peroxisome biogenesis disorder 4B1 test
Peroxisome biogenesis disorder 4a (zellweger)1 test
Peroxisome biogenesis disorder 5B1 test
Peroxisome biogenesis disorder 5a (zellweger)1 test
Peroxisome biogenesis disorder 6A1 test
Peroxisome biogenesis disorder 6B1 test
Peroxisome biogenesis disorder 9B1 test
Peroxisome biogenesis disorders, Zellweger syndrome spectrum1 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 I2 tests
Primary hyperoxaluria, type II2 tests
Primary hyperoxaluria, type III1 test
Propionic acidemia2 tests
Pseudo-Hurler polydystrophy1 test
Pyknodysostosis2 tests
Pyruvate carboxylase 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
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 due to ADA deficiency1 test
Sjögren-Larsson syndrome2 tests
Smith-Lemli-Opitz syndrome2 tests
Spinal muscular atrophy2 tests
Spinal muscular atrophy, distal, autosomal recessive, 11 test
Spinal muscular atrophy, distal, autosomal recessive, 51 test
Spondylocostal dysostosis 1, autosomal recessive1 test
Spondylocostal dysostosis 2, autosomal recessive1 test
Spongy degeneration of central nervous system2 tests
Tay-Sachs disease2 tests
Thrombophilia due to factor V Leiden1 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 III2 tests
Usher syndrome type 11 test
Usher syndrome type 1F2 tests
Usher syndrome, type 1C1 test
Usher syndrome, type 2A1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
Vitamin B12-responsive methylmalonic acidemia type cblA1 test
Vitamin B12-responsive methylmalonic acidemia type cblB1 test
Walker-Warburg congenital muscular dystrophy3 tests
Wilson disease2 tests
Wolman disease1 test
X-linked severe combined immunodeficiency1 test
Xeroderma pigmentosum group A1 test
Xeroderma pigmentosum, group C1 test
alpha Thalassemia1 test
beta Thalassemia2 tests
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