Alabama Genomic Health Initiative

AGHI Genes Tested and the Associated Medical Conditions

Participants in the Alabama Genomic Health Initiative are screened/genotyped for what the American College of Medical Genetics and Genomics (ACMG) calls “medically actionable” genetic differences in genes. Since there are over 20,000 genes in the human body, it is important to understand that this test only looks at the following genes for genetic differences that are linked to an increased risk for specific medical conditions. These genes were not fully sequenced, so a genetic difference may be in the gene outside of the areas examined. For more information please visit

Each of the following medical conditions is linked to consumer-friendly information provided by the National Institutes of Health (NIH) National Library of Medicine (NLM) at

Medical ConditionAssociated Genetic Difference(s)
Familial adenomatous polyposisAPC
Familial medullary thyroid cancerRET
Hereditary breast and/or ovarian cancerBRCA1, BRCA2, PALB2
Hereditary paraganglioma-pheochromocytoma syndromeMAX, SDHAF2, SDHB, SDHC, SDHD, TMEM127
Juvenile polyposis syndromeBMPR1A, SMAD4
Li-Fraumeni syndromeTP53
Lynch syndromeMLH1, MSH2, MSH6, PMS2
Multiple endocrine neoplasia type 1MEN1
MUTYH-associated polyposisMUTYH
Neurofibromatosis type 2NF2
Peutz-Jeghers syndromeSTK11
PTEN hamartoma tumor syndromePTEN
Tuberous sclerosis complexTSC1, TSC2
von Hippel-Lindau syndromeVHL
WT1-related Wilms tumorWT1
Cardiovascular Conditions 
Aortopathies (includes Marfan syndrome; Loeys-Dietz syndrome, type 1, 2, and 3; Familial thoracic aneurysms and dissectionsACTA2, FBN1, MYH11, SMAD3, TGFBR1, TGFBR2
Arrhythmogenic right ventricular cardiomyopathyDSC2, DSG2, DSP, PKP2, TMEM43
Catecholaminergic polymorphic ventricular tachycardia (CPVT)CASQ2, RYR2, TRDN
Dilated cardiomyopathyFLNC, LMNA, TTN, TNNT2
Ehlers-Danlos syndrome, vascular typeCOL3A1
Familial hypercholesterolemiaAPOB, LDLR, PCSK9
Hypertrophic cardiomyopathyACTC1, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TPM1
Long QT syndrome types 1 and 2KCNH2, KCNQ1
Long QT syndrome type 3; Brugada syndromeSCN5A
Metabolism Conditions 
Biotinidase deficiencyBTD
Fabry diseaseGLA
Ornithine transcarbamylase deficiencyOTC
Pompe diseaseGAA
Miscellaneous Conditions 
Hereditary hemochromatosis (HFE p.C282Y homozygotes only)HFE
Hereditary hemorrhagic telangiectasiaACVRL1, ENG
Malignant hyperthermiaCACNA1S , RYR1
Maturity-onset diabetes of the youngHNF1A
RPE65-related retinopathyRPE65
Wilson DiseaseATP7B

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