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 www.aghi.org.

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 https://medlineplus.gov/genetics/

 

Medical Condition

Associated Genetic Difference(s)

Cancers

 

Familial adenomatous polyposis

APC

Familial medullary thyroid cancer

RET

Hereditary breast and/or ovarian cancer

BRCA1, BRCA2, PALB2

Hereditary paraganglioma-pheochromocytoma syndrome

MAX, SDHAF2, SDHB, SDHC, SDHD, TMEM127

Juvenile polyposis syndrome

BMPR1A, SMAD4

Li-Fraumeni syndrome

TP53

Lynch syndrome

MLH1, MSH2, MSH6, PMS2

Multiple endocrine neoplasia type 1

MEN1

MUTYH-associated polyposis

MUTYH

Neurofibromatosis type 2

NF2

Peutz-Jeghers syndrome

STK11

PTEN hamartoma tumor syndrome

PTEN

Retinoblastoma

RB1

Tuberous sclerosis complex

TSC1, TSC2

von-Hippel-Lindau syndrome

VHL

WT1-related Wilms tumor

WT1

Cardiovascular Conditions

 

Aortopathies (includes Marfan syndrome; Loeys-Dietz syndrome, type 1, 2, and 3; Familial thoracic aneurysms and dissections

ACTA2, FBN1, MYH11, SMAD3, TGFBR1, TGFBR2

Arrhythmogenic right ventricular cardiomyopathy

DSC2, DSG2, DSP, PKP2, TMEM43

Catecholaminergic polymorphic ventricular tachycardia (CPVT)

CASQ2, RYR2, TRDN

Dilated cardiomyopathy

FLNC, LMNA, TTN, TNNT2

Ehlers-Danlos syndrome, vascular type

COL3A1

Familial hypercholesterolemia

APOB, LDLR, PCSK9

Hypertrophic cardiomyopathy

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

Long QT syndrome types 1 and 2

KCNH2, KCNQ1

Long QT syndrome type 3; Brugada syndrome

SCN5A

Metabolism Conditions

 

Biotinidase deficiency

BTD

Fabry disease

GLA

Ornithine transcarbamylase deficiency

OTC

Pompe disease

GAA

Miscellaneous Conditions

 

Hereditary hemochromatosis (HFE p.C282Y homozygotes only)

HFE

Hereditary hemorrhagic telangiectasia

ACVRL1, ENG

Malignant hyperthermia

CACNA1S , RYR1

Maturity-onset diabetes of the young

HNF1A

RPE65-related retinopathy

RPE65

Wilson Disease

ATP7B