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Gene List

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