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 – https://ghr.nlm.nih.gov
| 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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