Silver Gene Panel: Screen for 100 Common Genetic Conditions Prior to Conception
If you’re planning to start a family, take charge of your reproductive health with our Carrier Testing. The Silver Plan from Medgenome Claria, can identify up to 100 common genetic disorders. Carrier screening for these inherited conditions, such as cystic fibrosis or sickle cell anemia, can provide you with peace of mind about your baby’s health prior to your pregnancy.
Find out more about our Silver Plan by talking with a genetic counselor today!
Gene |
Phenotype in OMIM |
---|---|
ABCA12 | Congenital ichthyosis |
COL17A1 | Epidermolysis bullosa |
DCLRE1C | Omenn syndrome |
EDA | X-linked hypohidrotic ectodermal dysplasia-1 |
EDAR | Hypohidrotic ectodermal dysplasia-10B |
LAMB3 | non Herlitz/ Herlitz type of junctional epidermolysis bullosa |
OCA2 | Oculocutaneous albinism type II, Brown oculocutaneous albinism |
XPA | Xeroderma pigmentosum complementation group A |
XPC | Xeroderma pigmentosum complementation group C |
TYR | Oculocutaneous albinism type IA |
TYRP1 | Oculocutaneous albinism-3 |
Gene |
Phenotype in OMIM |
---|---|
ABCC8 | Familial hyperinsulinemic hypoglycemia-1 |
CYP21A2 | Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
KCNJ11 | Hyperinsulinsim type 2 |
Gene |
Phenotype in OMIM |
---|---|
CDH23 | Nonsyndromic autosomal recessive deafness-12 |
GJB2 | Bart-Pumphrey syndrome, autosomal dominant deafness-3A, autosomal recessive deafness 1A, hystrix-like ichthyosis with deafness, keratitis-ichthyosis-deafness syndrome, palmoplantar keratoderma with deafness, Vohwinkel syndrome |
MYO7A | Nonsyndromic deafness-2, Usher syndrome type IB |
SLC26A4 | Deafness Pendred syndrome |
TMC1 | Deafness-7 |
USH1C | Usher syndrome type IC, nonsyndromic autosomal recessive deafness-18A |
Gene |
Phenotype in OMIM |
---|---|
CFTR | Cystic fibrosis, Sweat chloride elevation without CF, Congenital bilateral aplasia of the vas deferens |
L1CAM | X-linked hydrocephalus |
Gene |
Phenotype in OMIM |
---|---|
F8 | Hemophilia A |
F9 | Hemophilia B |
FANCC | Fanconi anemia of complementation group C |
HBB | Sickle cell anemia |
WAS | Wiskott Aldrich syndrome, X-linked thrombocytopenia |
HMOX1 | heme oxygenase-1 deficiency |
Gene |
Phenotype in OMIM |
---|---|
ABCB11 | Progressive familial intrahepatic cholestasis-2 |
ABCB4 | Progressive familial intrahepatic cholestasis-3 |
ACADM | Medium-chain acyl-CoA dehydrogenase deficiency |
ACAT1 | Alpha-methylacetoacetic aciduria |
AGL | Glycogen storage disease III |
AGXT | Primary hyperoxaluria type I |
ALDH3A2 | Sjogren-Larsson syndrome |
ALDOB | Hereditary fructose intolerance |
ASL | Argininosuccinic aciduria |
ASS1 | Citrullinemia |
ATP8B2 | Progressive familial intrahepatic cholestasis-1 |
BCKDHA | Maple syrup urine disease type Ia |
BCKDHB | Maple syrup urine disease type Ib |
BTD | Biotinidase deficiency |
CBS | Homocystinuria with or without response to pyridoxine |
DBT | Maple syrup urine disease, type II |
DHCR7 | Smith Lemlie Opitz syndrome |
DPYD | Dihydropyrimidine dehydrogenase deficiency |
FAH | Tyrosinemia type I |
G6PC | Glycogen storage disease 1a |
GAA | Glycogen storage disease II |
GALNS | Mucopolysaccharidosis type IVA |
GALT | Galactosemia |
GBA | perinatal lethal Gaucher disease, Gaucher disease type I, Gaucher disease type II, Gaucher disease type III, Gaucher disease type IIIC |
GCDH | Glutaricaciduria type I |
GLA | Fabry disease, cardiac variant Fabry disease |
GLB1 | GM1 gangliosidosis type 1,2,3 Mucopolysaccharidosis type IVB |
GNPTAB | Mucolipidosois type II/IIIA |
IDS | Mucopolysaccharidosis type II |
IDUA | Hurler syndrome, Hurler-Scheie syndrome, Scheie syndrome |
IVD | Isovaleric acidemia |
MMAA | Methylmalonic aciduria of the cblA complementation type |
MMAB | Methylmalonic aciduria of the cblB complementation type |
MUT | Methylmalonic aciduria of the complementation group ‘mut’ |
NAGLU | Sanfilippo syndrome B/ Mucopolysaccharidosis type IIIB |
OTC | Ornithine transcarbamylase deficiency |
PAH | Phenylketonuria and non-PKU mild hyperphenylalaninemia |
PCCA | Propionic acidemia |
PCCB | Propionic acidemia |
PMM2 | Congenital disorder of glycosylation type Ia |
SGSH | Mucopolysaccharidosis type IIIA (Sanfilippo A) |
SLC37A4 | Glycogen storage disease Ib/ Ic |
Gene |
Phenotype in OMIM |
---|---|
BTK | Bruton agammaglobulinemia |
CYBB | X-linked chronic granulomatous disease |
IL2RG | X-linked moderate combined immunodeficiency, X-linked severe combined immunodeficiency |
Gene |
Phenotype in OMIM |
---|---|
ABCB11 | Progressive familial intrahepatic cholestasis-2 |
ABCB4 | Progressive familial intrahepatic cholestasis-3 |
ATP7B | Wilson disease |
ATP8B2 | Progressive familial intrahepatic cholestasis-1 |
HMOX1 | heme oxygenase-1 deficiency |
NPC1 | Niemann-Pick disease type C1 and Niemann-Pick disease type D |
SMPD1 | Niemann-Pick disease type A/ B |
Gene |
Phenotype in OMIM |
---|---|
ARSA | Metachromtaic leukodystrophy |
PMM2 | Congenital disorder of glycosylation type Ia |
Gene |
Phenotype in OMIM |
---|---|
DYSF | Miyoshi muscular dystrophy-1 |
LAMA2 | Merosin-deficient congenital muscular dystrophy |
SGCA | Limb-girdle muscular dystrophy type 2D |
SGCG | Limb-girdle muscular dystrophy type 2C |
SPG11 | Spastic paraplegia-11 |
TCIRG1 | Osteopetrosis type 1 |
PLP1 | Pelizaeus-Merzbacher disease |
Gene |
Phenotype in OMIM |
---|---|
OCRL | Dent disease-2, Lowe syndrome |
PKHD1 | Polycystic kidney disease |
TMEM67 | Meckel syndrome type 3 |
Gene |
Phenotype in OMIM |
---|---|
CLN3 | Neuronal ceroid lipofuscinosis-3 |
GALC | Krabbe disease |
HEXA | GM2 Tay Sach disease |
HEXB | GM2 Sandhoff disease |
PANK2 | HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration), Neurodegeneration with brain iron accumulation-1 (Hallervorden-Spatz disease) |
PLA2G6 | Infantile neuroaxonal dystrophy 1, Neurodegeneration with brain iron accumulation NBIA2B |
PPT1 | Neuronal ceroid lipofuscinosis-1 |
TPP1 | Neuronal ceroid lipofuscinosis-2 |
Gene |
Phenotype in OMIM |
---|---|
ABCD1 | Adrenoleukodystrophy |
ASPA | Canavan disease |
ASPM | Microcephaly |
ATM | Ataxia telengiectasia |
PEX1 | Heimler syndrome-1, Zellweger syndrome |
PLP1 | Pelizaeus-Merzbacher disease |
UGT1A1 | Crigler-Najjar syndrome type I |
TMEM67 | Meckel syndrome type 3 |
Gene |
Phenotype in OMIM |
---|---|
CAPN3 | Limb-girdle muscular dystrophy type 2A |
DMD | Duchenne muscular dystrophy |
Gene |
Phenotype in OMIM |
---|---|
TYR | Oculocutaneous albinism type IA |
TYRP1 | Oculocutaneous albinism-3 |
OCA2 | Oculocutaneous albinism type II, Brown oculocutaneous albinism |
PANK2 | HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration), Neurodegeneration with brain iron accumulation-1 (Hallervorden-Spatz disease) |
USH1C | Usher syndrome type IC, nonsyndromic autosomal recessive deafness-18A |
XPA | Xeroderma pigmentosum complementation group A |
XPC | Xeroderma pigmentosum complementation group C |
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