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 currently only looks at the following 59 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 www.aghi.org.

Each of the following medical conditions is linked to consumer-friendly information provided by the National Institutes of Health at Genetics Home Reference: Your Guide to Understanding Genetic Conditions – https://ghr.nlm.nih.gov

 

Medical Condition

Associated Genetic Difference(s)

Arrhythmogenic right ventricular cardiomyopathy

DSC2, DSG2, DSP, PKP2, TMEM43

Brugada syndrome, Long QT  (Romano-Ward) syndrome

SCN5A

Dilated cardiomyopathy

LMNA

Ehlers-Danlos syndrome, vascular type

COL3A1

Fabry disease

GLA

Familial adenomatous polyposis

APC

Familial hypercholesterolemia

APOB, LDLR

Familial hypertrophic cardiomyopathy

ACTC1, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TPM1

Familial thoracic aortic aneurysm

ACTA2, MYH11

Hereditary breast-ovarian cancer

BRCA1, BRCA2

Hereditary paraganglioma-pheochromocytoma syndrome

SDHAF2, SDHB, SDHC, SDHD

MYH-associated polyposis

MUTYH

Hypercholesterolemia

PCSK9

Hypertrophic cardiomyopathy

TNNT2

Juvenile polyposis

BMPR1A, SMAD4

Li-Fraumeni syndrome

TP53

Loeys-Dietz syndrome, type 3

SMAD3

Loeys-Dietz syndrome, type 1 and 2; Familial Thoracic Aneurysms and Dissections

TGFBR1, TGFBR2

Long QT  (Romano Ward) syndrome, type 1

KCNQ1

Long QT (Romano Ward) syndrome, type 2

KCNH2

Lynch syndrome

MLH1, MSH2, MSH6, PMS2

Malignant hyperthermia

CACNA1S , RYR1, RYR2

Marfan syndrome

FBN1

Multiple endocrine neoplasia, type 1

MEN1

Multiple endocrine neoplasia, type 2a

RET

Neurofibromatosis, type 2

NF2

Ornithine carbamoyltransferase deficiency

OTC

Peutz-Jeghers syndrome

STK11

PTEN hamartoma tumor syndrome

PTEN

Retinoblastoma

RB1

Tuberous sclerosis complex

TSC1, TSC2

Von-Hippel-Lindau syndrome

VHL

Wilms’ tumor

WT1

Wilson Disease

ATP7B