Silver Plan

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!
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Dermatology - 100 gene panel

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

Endocrine diseases -100 gene panel

Gene
Phenotype in OMIM
ABCC8 Familial hyperinsulinemic hypoglycemia-1
CYP21A2 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
KCNJ11 Hyperinsulinsim type 2

ENT disorders - 100 gene panel

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

Fetal medicine - 100 gene panel

Gene
Phenotype in OMIM
CFTR Cystic fibrosis, Sweat chloride elevation without CF, Congenital bilateral aplasia of the vas deferens
L1CAM X-linked hydrocephalus

Haematology disorders - 100 gene panel

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

IEM - 100 gene panel

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

Immunodeficiency - 100 gene panel

Gene
Phenotype in OMIM
BTK Bruton agammaglobulinemia
CYBB X-linked chronic granulomatous disease
IL2RG X-linked moderate combined immunodeficiency, X-linked severe combined immunodeficiency

Metabolic disorders - 100 gene panel

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

Mitochondrial disorders - 100 gene Panel

Gene
Phenotype in OMIM
ARSA Metachromtaic leukodystrophy
PMM2 Congenital disorder of glycosylation type Ia

Musculoskeletal - 100 gene panel

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

Nephrology - 100 gene panel

Gene
Phenotype in OMIM
OCRL Dent disease-2, Lowe syndrome
PKHD1 Polycystic kidney disease
TMEM67 Meckel syndrome type 3

Neurodegenerative - 100 gene panel

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

Neurology - 100 gene panel

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

Neuromuscular - 100 gene panel

Gene
Phenotype in OMIM
CAPN3 Limb-girdle muscular dystrophy type 2A
DMD Duchenne muscular dystrophy

Ophthalmology - 100 gene panel

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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