Sanger Sequencing Gene List

GeneMethodologyCondition/Test
ABCA4 Sanger Sequencing
Stargardt disease
ACADMSanger Sequencing
Medium chain acyl-CoA dehydrogenase deficiency
ACADSSanger Sequencing
Short chain acyl-CoA dehydrogenase deficiency
ALDOBSanger Sequencing
Hereditary fructose intolerance
ASPASanger Sequencing
Canavan disease
CFTRSanger Sequencing
Cystic fibrosis
CPT2Sanger Sequencing
Carnitine palmitoyltransferase II deficiency
DHCR7Sanger Sequencing
Smith-Lemli-Opitz syndrome
FAHSanger Sequencing
Tyrosinemia, type 1
FKTNSanger Sequencing
FKTN-related disorders, including Walker-Warburg syndrome
G6PCSanger Sequencing
Glycogen storage disease type 1a
GALTSanger Sequencing
Galactosemia
GBASanger Sequencing
Gaucher Disease
GJB2Sanger Sequencing; Deletion/Duplication
GJB2-related DFNB1 nonsydromic hearing loss
HBBSanger Sequencing
Beta Thalassemia and other beta-globinopathies
HEXASanger Sequencing
Tay-Sachs disease
MEFVSanger Sequencing
Familial Mediterranean fever
PMM2Sanger Sequencing
Hereditary disorder of glycosylation type 1a
POLGSanger Sequencing
Ataxia neuropathy spectrum disorders
POMT2Sanger Sequencing
POMT2-related disorders, including Walker-Warburg syndrome
SLC26A4Sanger Sequencing
Pendred Syndrome
SMN1Sanger Sequencing; Deletion/Duplication
Spinal Muscular Atrophy
SMPD1Sanger Sequencing
Niemann-Pick Disease