Medically Actionable Conditions for Genomic Screening

Since there are over 20,000 genes in the human body, it is important to understand that the HudsonAlpha Health Alliance Disease Risk Genomic Screening is only currently looking at the following 73 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.

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 –

Medical Condition Associated Genes
Arrhythmogenic right ventricular cardiomyopathy DSC2, DSG2, DSP, PKP2, TMEM43
Biotinidase deficiency BTD
Brugada syndrome, Long QT (Romano-Ward) syndrome SCN5A
Cardiomyopathy FLNC, TTN
Catecholaminergic polymorphic ventricular tachycardia (CVPT) . CASQ2
Catecholaminergic polymorphic ventricular tachycardia and long QT syndrome TRDN
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 hemochromatosis (HFE p. C282Y homozygotes only). HFE
Hereditary hemorrhagic telangiectasia ACVRL1, ENG
Hereditary paragangliomapheochromocytoma 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
Maturity-onset diabetes of the young HNF1A
Multiple endocrine neoplasia, type 1 MEN1
Multiple endocrine neoplasia, type 2a RET
Neurofibromatosis, type 2 NF2
Ornithine carbamoyltransferase deficiency OTC
Peutz-Jeghers syndrome STK11
Pompe disease GAA
PTEN hamartoma tumor syndrome PTEN
Retinoblastoma RB1
RPE65-related retinopathy RPE65
Tuberous sclerosis complex TSC1, TSC2
Von-Hippel-Lindau syndrome VHL
Wilms’ tumor WT1
Wilson Disease ATP7B

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