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