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Gene List

The GenePeeks Preconception Screen focuses on autosomal recessive disease and X-linked disease potential in future children.

The GenePeeks Preconception Screen uses next-generation sequencing to cover coding regions and adjacent splice sites of the genes listed below. This sequencing technology is able to identify most, but not all, genetic changes associated with disease. Supplemental analysis is also used to identify targeted mutations in some genes.

Below are the genes sequenced in this screen and the targeted disease(s) associated with each of these genes. Additional information about genes and diseases can be found by using the links to the right.

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Gene Diseases External Disease Links
AAAS Achalasia-addisonianism-alacrimia syndrome [AR]
GHR | OMIM®
AARS2 Combined oxidative phosphorylation deficiency 8 [AR]
Progressive leukoencephalopathy with ovarian failure [AR]
OMIM®
OMIM®
ABCA1 Tangier disease [AR]
GHR | OMIM®
ABCA12 Autosomal recessive congenital ichthyosis 4A [AR]
Autosomal recessive congenital ichthyosis 4B [AR]
GHR | GeneReviews | OMIM®
GHR | GeneReviews | OMIM®
ABCA3 Pulmonary surfactant metabolism dysfunction 3 [AR]
GHR | OMIM®
ABCA4 Cone-rod dystrophy 3 [AR]
Retinitis pigmentosa 19 [AR]
Stargardt disease 1 [AR]
OMIM®
OMIM®
OMIM®
ABCB11 Progressive familial intrahepatic cholestasis 2 [AR]
GHR | GeneReviews | OMIM®
ABCB4 Progressive familial intrahepatic cholestasis 3 [AR]
GHR | GeneReviews | OMIM®
ABCB7 Sideroblastic anemia with ataxia [XL]
GHR | GeneReviews | OMIM®
ABCC6 Generalized arterial calcification of infancy 2 [AR]
Pseudoxanthoma elasticum [AR]
GHR | GeneReviews | OMIM®
GHR | GeneReviews | OMIM®
ABCC8 Familial hyperinsulinemic hypoglycemia 1 [AR, AD]
Permanent neonatal diabetes mellitus [AR, AD]
GHR | GeneReviews | OMIM®
GHR | GeneReviews | OMIM®
ABCD1 X-linked adrenoleukodystrophy [XL]
GHR | GeneReviews | OMIM®
ABCG5 Sitosterolemia [AR]
GHR | GeneReviews | OMIM®
ABCG8 Sitosterolemia [AR]
GHR | GeneReviews | OMIM®
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [AR]
OMIM®
ABHD5 Chanarin-Dorfman syndrome [AR]
GHR | OMIM®
ACAD9 Mitochondrial complex I deficiency due to ACAD9 deficiency [AR]
OMIM®
ACADM Medium-chain Acyl-CoA dehydrogenase deficiency [AR]
GHR | GeneReviews | OMIM®
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of [AR]
OMIM®
ACADVL Very long chain Acyl-CoA dehydrogenase deficiency [AR]
GHR | GeneReviews | OMIM®
ACAT1 Alpha-methylacetoacetic aciduria [AR]
GHR | GeneReviews | OMIM®
ACE Renal tubular dysgenesis [AR]
GHR | OMIM®
ACO2 Infantile cerebellar-retinal degeneration [AR]
GeneReviews | OMIM®
ACOX1 Peroxisomal acyl-CoA oxidase deficiency [AR]
OMIM®
ACP5 Spondyloenchondrodysplasia with immune dysregulation [AR]
GHR | OMIM®