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Gene List

The gene coverage of GenePeeks Preconception Screen with next generation sequencing includes coding regions and adjacent splice sites, which account for most, but not all identifiable disease mutations. Supplemental analysis is also used in some genes to identify targeted mutations.

Beside each gene symbol are recessive diseases known to be associated with genes in this panel. Additional information for each gene and many 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]
OMIM® | GHR
AARS2 Combined oxidative phosphorylation deficiency 8 [AR]
Progressive leukoencephalopathy with ovarian failure [AR]
OMIM®
OMIM®
ABCA1 Tangier disease [AR]
OMIM® | GHR
ABCA12 Autosomal recessive congenital ichthyosis 4A [AR]
Autosomal recessive congenital ichthyosis 4B [AR]
GeneReviews | OMIM® | GHR
GeneReviews | OMIM® | GHR
ABCA3 Pulmonary surfactant metabolism dysfunction 3 [AR]
OMIM® | GHR
ABCA4 Cone-rod dystrophy 3 [AR]
Retinitis pigmentosa 19 [AR]
Stargardt disease 1 [AR]
OMIM®
OMIM®
OMIM®
ABCB11 Progressive familial intrahepatic cholestasis 2 [AR]
GeneReviews | OMIM® | GHR
ABCB4 Progressive familial intrahepatic cholestasis 3 [AR]
GeneReviews | OMIM® | GHR
ABCC6 Generalized arterial calcification of infancy 2 [AR]
Pseudoxanthoma elasticum [AR]
GeneReviews | OMIM® | GHR
GeneReviews | OMIM® | GHR
ABCC8 Familial hyperinsulinemic hypoglycemia 1 [AR, AD]
Permanent neonatal diabetes mellitus [AR, AD]
GeneReviews | OMIM® | GHR
GeneReviews | OMIM® | GHR
ABCG5 Sitosterolemia [AR]
GeneReviews | OMIM® | GHR
ABCG8 Sitosterolemia [AR]
GeneReviews | OMIM® | GHR
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [AR]
OMIM®
ABHD5 Chanarin-Dorfman syndrome [AR]
OMIM® | GHR
ACAD9 Mitochondrial complex I deficiency due to ACAD9 deficiency [AR]
OMIM®
ACADM Medium-chain Acyl-CoA dehydrogenase deficiency [AR]
GeneReviews | OMIM® | GHR
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of [AR]
OMIM®
ACADVL Very long chain Acyl-CoA dehydrogenase deficiency [AR]
GeneReviews | OMIM® | GHR
ACAT1 Alpha-methylacetoacetic aciduria [AR]
GeneReviews | OMIM® | GHR
ACE Renal tubular dysgenesis [AR]
OMIM® | GHR
ACO2 Infantile cerebellar-retinal degeneration [AR]
GeneReviews | OMIM®
ACOX1 Peroxisomal acyl-CoA oxidase deficiency [AR]
OMIM®
ACP5 Spondyloenchondrodysplasia with immune dysregulation [AR]
OMIM® | GHR
ACSF3 Combined malonic and methylmalonic aciduria [AR]
OMIM® | GHR
ACTA1 Nemaline myopathy 3 [AR, AD]
GeneReviews | OMIM® | GHR