Silver Plan

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
ABCA12Congenital ichthyosis
COL17A1Epidermolysis bullosa
DCLRE1COmenn syndrome
EDAX-linked hypohidrotic ectodermal dysplasia-1
EDARHypohidrotic ectodermal dysplasia-10B
LAMB3non Herlitz/ Herlitz type of junctional epidermolysis bullosa
OCA2Oculocutaneous albinism type II, Brown oculocutaneous albinism
XPAXeroderma pigmentosum complementation group A
XPCXeroderma pigmentosum complementation group C
TYROculocutaneous albinism type IA
TYRP1Oculocutaneous albinism-3

Gene
Phenotype in OMIM
ABCC8Familial hyperinsulinemic hypoglycemia-1
CYP21A2Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
KCNJ11Hyperinsulinsim type 2

Gene
Phenotype in OMIM
CDH23Nonsyndromic autosomal recessive deafness-12
GJB2Bart-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
MYO7ANonsyndromic deafness-2, Usher syndrome type IB
SLC26A4Deafness Pendred syndrome
TMC1Deafness-7
USH1CUsher syndrome type IC, nonsyndromic autosomal recessive deafness-18A

Gene
Phenotype in OMIM
CFTRCystic fibrosis, Sweat chloride elevation without CF, Congenital bilateral aplasia of the vas deferens
L1CAMX-linked hydrocephalus

Gene
Phenotype in OMIM
F8Hemophilia A
F9Hemophilia B
FANCCFanconi anemia of complementation group C
HBBSickle cell anemia
WASWiskott Aldrich syndrome, X-linked thrombocytopenia
HMOX1heme oxygenase-1 deficiency

Gene
Phenotype in OMIM
ABCB11Progressive familial intrahepatic cholestasis-2
ABCB4Progressive familial intrahepatic cholestasis-3
ACADMMedium-chain acyl-CoA dehydrogenase deficiency
ACAT1Alpha-methylacetoacetic aciduria
AGLGlycogen storage disease III
AGXTPrimary hyperoxaluria type I
ALDH3A2Sjogren-Larsson syndrome
ALDOBHereditary fructose intolerance
ASLArgininosuccinic aciduria
ASS1Citrullinemia
ATP8B2Progressive familial intrahepatic cholestasis-1
BCKDHAMaple syrup urine disease type Ia
BCKDHBMaple syrup urine disease type Ib
BTDBiotinidase deficiency
CBSHomocystinuria with or without response to pyridoxine
DBTMaple syrup urine disease, type II
DHCR7Smith Lemlie Opitz syndrome
DPYDDihydropyrimidine dehydrogenase deficiency
FAHTyrosinemia type I
G6PCGlycogen storage disease 1a
GAAGlycogen storage disease II
GALNSMucopolysaccharidosis type IVA
GALTGalactosemia
GBAperinatal lethal Gaucher disease, Gaucher disease type I, Gaucher disease type II, Gaucher disease type III, Gaucher disease type IIIC
GCDHGlutaricaciduria type I
GLAFabry disease, cardiac variant Fabry disease
GLB1GM1 gangliosidosis type 1,2,3 Mucopolysaccharidosis type IVB
GNPTABMucolipidosois type II/IIIA
IDSMucopolysaccharidosis type II
IDUAHurler syndrome, Hurler-Scheie syndrome, Scheie syndrome
IVDIsovaleric acidemia
MMAAMethylmalonic aciduria of the cblA complementation type
MMABMethylmalonic aciduria of the cblB complementation type
MUTMethylmalonic aciduria of the complementation group ‘mut’
NAGLUSanfilippo syndrome B/ Mucopolysaccharidosis type IIIB
OTCOrnithine transcarbamylase deficiency
PAHPhenylketonuria and non-PKU mild hyperphenylalaninemia
PCCAPropionic acidemia
PCCBPropionic acidemia
PMM2Congenital disorder of glycosylation type Ia
SGSHMucopolysaccharidosis type IIIA (Sanfilippo A)
SLC37A4Glycogen storage disease Ib/ Ic

Gene
Phenotype in OMIM
BTKBruton agammaglobulinemia
CYBBX-linked chronic granulomatous disease
IL2RGX-linked moderate combined immunodeficiency, X-linked severe combined immunodeficiency

Gene
Phenotype in OMIM
ABCB11Progressive familial intrahepatic cholestasis-2
ABCB4Progressive familial intrahepatic cholestasis-3
ATP7BWilson disease
ATP8B2Progressive familial intrahepatic cholestasis-1
HMOX1heme oxygenase-1 deficiency
NPC1Niemann-Pick disease type C1 and Niemann-Pick disease type D
SMPD1Niemann-Pick disease type A/ B

Gene
Phenotype in OMIM
ARSAMetachromtaic leukodystrophy
PMM2Congenital disorder of glycosylation type Ia

Gene
Phenotype in OMIM
DYSFMiyoshi muscular dystrophy-1
LAMA2Merosin-deficient congenital muscular dystrophy
SGCALimb-girdle muscular dystrophy type 2D
SGCGLimb-girdle muscular dystrophy type 2C
SPG11Spastic paraplegia-11
TCIRG1Osteopetrosis type 1
PLP1Pelizaeus-Merzbacher disease

Gene
Phenotype in OMIM
OCRLDent disease-2, Lowe syndrome
PKHD1Polycystic kidney disease
TMEM67Meckel syndrome type 3

Gene
Phenotype in OMIM
CLN3Neuronal ceroid lipofuscinosis-3
GALCKrabbe disease
HEXAGM2 Tay Sach disease
HEXBGM2 Sandhoff  disease
PANK2HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration), Neurodegeneration with brain iron accumulation-1 (Hallervorden-Spatz disease)
PLA2G6Infantile neuroaxonal dystrophy 1, Neurodegeneration with brain iron accumulation NBIA2B
PPT1Neuronal ceroid lipofuscinosis-1
TPP1Neuronal ceroid lipofuscinosis-2

Gene
Phenotype in OMIM
ABCD1Adrenoleukodystrophy
ASPACanavan disease
ASPMMicrocephaly
ATMAtaxia telengiectasia
PEX1Heimler syndrome-1, Zellweger syndrome
PLP1Pelizaeus-Merzbacher disease
UGT1A1Crigler-Najjar syndrome type I
TMEM67Meckel syndrome type 3

Gene
Phenotype in OMIM
CAPN3Limb-girdle muscular dystrophy type 2A
DMDDuchenne muscular dystrophy

Gene
Phenotype in OMIM
TYROculocutaneous albinism type IA
TYRP1Oculocutaneous albinism-3
OCA2Oculocutaneous albinism type II, Brown oculocutaneous albinism
PANK2HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration), Neurodegeneration with brain iron accumulation-1 (Hallervorden-Spatz disease)
USH1CUsher syndrome type IC, nonsyndromic autosomal recessive deafness-18A
XPAXeroderma pigmentosum complementation group A
XPCXeroderma pigmentosum complementation group C

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