{"id":251,"date":"2026-09-09T17:21:18","date_gmt":"2026-09-09T17:21:18","guid":{"rendered":"https:\/\/uabmedicine-develop.go-vip.net\/aghi\/?page_id=251"},"modified":"2026-09-09T17:21:18","modified_gmt":"2026-09-09T17:21:18","slug":"aghi-genes-tested","status":"publish","type":"page","link":"https:\/\/wpvip.uabmedicine.org\/aghi\/home-2\/genes-tested\/aghi-genes-tested\/","title":{"rendered":"AGHI Genes Tested and the Associated Medical Conditions"},"content":{"rendered":"\n<div class=\"wp-block-fractal-child-nav-layout zn-child-nav-layout\"><div class=\"zn-layout-stage\">\t<div class=\"zn-section-child-nav\">\n\t\t<div class=\"zn-child-nav\">\n\t\t\t<div class=\"zn-child-nav-heading\">\n\t\t\t\tGenes Tested Menu\n\t\t\t<\/div>\n\t\t\t<div id=\"zn-child-nav-panel\">\n\t\t\t\t<nav aria-label=\"Section\">\n\t\t\t\t\t<div class=\"zn-nav\">\n\t\t\t\t\t\t<ul>\n\t\t\t\t\t\t\t<li class=\"zn-section-parent\"><a href=\"https:\/\/wpvip.uabmedicine.org\/aghi\/home-2\/genes-tested\/\">Genes Tested<\/a><\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<li ><a href=\"https:\/\/wpvip.uabmedicine.org\/aghi\/home-2\/genes-tested\/genes-tested-2\/\">Pharmacogenomic Genes<\/a><\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<li class=\"current\"><a href=\"https:\/\/wpvip.uabmedicine.org\/aghi\/home-2\/genes-tested\/aghi-genes-tested\/\">AGHI Genes Tested and the Associated Medical Conditions<\/a><\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/ul>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/nav>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n    \n\n\n<div class=\"wp-block-fractal-child-nav-main-col zn-section-main\">\n<h3 class=\"wp-block-heading\">AGHI Genes Tested and the Associated Medical Conditions<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Participants in the Alabama Genomic Health Initiative are screened\/genotyped for what the American College of Medical Genetics and Genomics (ACMG) calls \u201cmedically actionable\u201d genetic differences in genes. Since there are over 20,000 genes&nbsp;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 <a href=\"https:\/\/www.uabmedicine.org\/services\/aghi\/\">www.aghi.org<\/a><a href=\"http:\/\/www.aghi.org\/\">.<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">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 <a href=\"https:\/\/medlineplus.gov\/genetics\/\" target=\"_blank\" rel=\"noreferrer noopener\"><em>https:\/\/medlineplus.gov\/genetics\/<\/em><\/a><\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th><strong>Medical<\/strong> <strong>Condition<\/strong><\/th><th><strong>Associated Genetic Difference(s)<\/strong><\/th><\/tr><\/thead><tbody><tr><td><strong>Cancers<\/strong><\/td><td>&nbsp;<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/familial-adenomatous-polyposis\/\" target=\"_blank\" rel=\"noreferrer noopener\">Familial adenomatous polyposis<\/a><\/td><td>APC<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/multiple-endocrine-neoplasia\/\" target=\"_blank\" rel=\"noreferrer noopener\">Familial medullary thyroid cancer<\/a>, multiple endocrine neoplasia type 2<\/td><td>RET<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/breast-cancer\/\" target=\"_blank\" rel=\"noreferrer noopener\">Hereditary breast and\/or ovarian cancer<\/a><\/td><td>BRCA1, BRCA2, PALB2<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/hereditary-paraganglioma-pheochromocytoma\/\" target=\"_blank\" rel=\"noreferrer noopener\">Hereditary paraganglioma-pheochromocytoma syndrome<\/a><\/td><td>MAX, SDHAF2, SDHB, SDHC, SDHD, TMEM127<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/juvenile-polyposis-syndrome\/\" target=\"_blank\" rel=\"noreferrer noopener\">Juvenile polyposis syndrome<\/a><\/td><td>BMPR1A, SMAD4<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/li-fraumeni-syndrome\/\" target=\"_blank\" rel=\"noreferrer noopener\">Li-Fraumeni syndrome<\/a><\/td><td>TP53<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/lynch-syndrome\/\" target=\"_blank\" rel=\"noreferrer noopener\">Lynch syndrome<\/a><\/td><td>MLH1, MSH2, MSH6, PMS2<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/multiple-endocrine-neoplasia\/\" target=\"_blank\" rel=\"noreferrer noopener\">Multiple endocrine neoplasia type 1<\/a><\/td><td>MEN1<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/familial-adenomatous-polyposis\/\" target=\"_blank\" rel=\"noreferrer noopener\">MUTYH-associated polyposis<\/a><\/td><td>MUTYH<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/neurofibromatosis-type-2\/\" target=\"_blank\" rel=\"noreferrer noopener\">Neurofibromatosis type 2<\/a><\/td><td>NF2<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/peutz-jeghers-syndrome\/\" target=\"_blank\" rel=\"noreferrer noopener\">Peutz-Jeghers syndrome<\/a><\/td><td>STK11<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/gene\/pten\/#conditions\" target=\"_blank\" rel=\"noreferrer noopener\">PTEN hamartoma tumor syndrome<\/a><\/td><td>PTEN<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/retinoblastoma\/\" target=\"_blank\" rel=\"noreferrer noopener\">Retinoblastoma<\/a><\/td><td>RB1<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/tuberous-sclerosis-complex\/\" target=\"_blank\" rel=\"noreferrer noopener\">Tuberous sclerosis complex<\/a><\/td><td>TSC1, TSC2<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/von-hippel-lindau-syndrome\/\" target=\"_blank\" rel=\"noreferrer noopener\">von Hippel-Lindau syndrome<\/a><\/td><td>VHL<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/wilms-tumor\/\" target=\"_blank\" rel=\"noreferrer noopener\">WT1-related Wilms tumor<\/a><\/td><td>WT1<\/td><\/tr><tr><td><strong>Cardiovascular Conditions<\/strong><\/td><td>&nbsp;<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/marfan-syndrome\/\">Aortopathies (includes Marfan syndrome<\/a>; <a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/loeys-dietz-syndrome\/\">Loeys-Dietz syndrome, type 1, 2, and 3<\/a>; <a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/familial-thoracic-aortic-aneurysm-and-dissection\/\" target=\"_blank\" rel=\"noreferrer noopener\">Familial thoracic aneurysms and dissections<\/a><\/td><td>ACTA2, FBN1, MYH11, SMAD3, TGFBR1, TGFBR2<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/arrhythmogenic-right-ventricular-cardiomyopathy\/\" target=\"_blank\" rel=\"noreferrer noopener\">Arrhythmogenic right ventricular cardiomyopathy<\/a><\/td><td>DSC2, DSG2, DSP, PKP2, TMEM43<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/catecholaminergic-polymorphic-ventricular-tachycardia\/\" target=\"_blank\" rel=\"noreferrer noopener\">Catecholaminergic polymorphic ventricular tachycardia (CPVT)<\/a><\/td><td>CASQ2, RYR2, TRDN<\/td><\/tr><tr><td>Hereditary paraganglioma-pheochromocytoma syndrome<\/td><td>MAX, SDHAF2, SDHB, SDHC, SDHD, TMEM127<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/familial-dilated-cardiomyopathy\/\" target=\"_blank\" rel=\"noreferrer noopener\">Dilated cardiomyopathy<\/a><\/td><td>FLNC, LMNA, TTN, TNNT2, TNNC1, BAG3, DES, RBM20<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/ehlers-danlos-syndrome\/#causes\" target=\"_blank\" rel=\"noreferrer noopener\">Ehlers-Danlos syndrome, vascular type<\/a><\/td><td>COL3A1<\/td><\/tr><tr><td>Lynch syndrome<\/td><td>MLH1, MSH2, MSH6, PMS2<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/familial-hypercholesterolemia\/\" target=\"_blank\" rel=\"noreferrer noopener\">Familial hypercholesterolemia<\/a><\/td><td>APOB, LDLR, PCSK9<\/td><\/tr><tr><td>Romano-Ward long-QT syndrome types 1, 2, 3, 14, 15 and 16, Brugada syndrome<\/td><td>KCNQ1, KCNH2, SCN5A, CALM1, CALM2, CALM3<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/familial-restrictive-cardiomyopathy\/\" target=\"_blank\" rel=\"noreferrer noopener\">Hypertrophic cardiomyopathy<\/a><\/td><td>ACTC1, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TPM1, TNNT2, GLA, LMNA, FLNC, TTN, BAG3, DES, RBM20, TNNC1<\/td><\/tr><tr><td><strong>Metabolism Conditions<\/strong><\/td><td>&nbsp;<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/biotinidase-deficiency\/\" target=\"_blank\" rel=\"noreferrer noopener\">Biotinidase deficiency<\/a><\/td><td>BTD<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/fabry-disease\/\" target=\"_blank\" rel=\"noreferrer noopener\">Fabry disease<\/a><\/td><td>GLA<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/ornithine-transcarbamylase-deficiency\/\" target=\"_blank\" rel=\"noreferrer noopener\">Ornithine transcarbamylase deficiency<\/a><\/td><td>OTC<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/pompe-disease\/\" target=\"_blank\" rel=\"noreferrer noopener\">Pompe disease<\/a><\/td><td>GAA<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/hereditary-hemochromatosis\/\" target=\"_blank\" rel=\"noreferrer noopener\">Hereditary hemochromatosis (HFE p.C282Y homozygotes only)<\/a><\/td><td>HFE<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/hereditary-hemorrhagic-telangiectasia\/\" target=\"_blank\" rel=\"noreferrer noopener\">Hereditary hemorrhagic telangiectasia<\/a><\/td><td>ACVRL1, ENG<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/malignant-hyperthermia\/\" target=\"_blank\" rel=\"noreferrer noopener\">Malignant hyperthermia<\/a><\/td><td>CACNA1S , RYR1<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/maturity-onset-diabetes-of-the-young\/\" target=\"_blank\" rel=\"noreferrer noopener\">Maturity-onset diabetes of the young<\/a><\/td><td>HNF1A<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/retinitis-pigmentosa\/\" target=\"_blank\" rel=\"noreferrer noopener\">RPE65-related retinopathy<\/a><\/td><td>RPE65<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/wilson-disease\/\" target=\"_blank\" rel=\"noreferrer noopener\">Wilson Disease<\/a><\/td><td>ATP7B<\/td><\/tr><tr><td><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/transthyretin-amyloidosis\/#inheritance\">Hereditary TTR amyloidosis<\/a><\/td><td>TTR<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-fractal-child-nav-sidebar-col zn-section-aside\">\n<p class=\"wp-block-paragraph\"><\/p>\n<\/div>\n<\/div><\/div>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":4,"featured_media":0,"parent":20,"menu_order":3,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-251","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>AGHI Genes Tested and the Associated Medical Conditions - AGHI<\/title>\n<meta name=\"robots\" content=\"noindex, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" 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