MEDICAL CONDITION ASSOCIATED GENETIC DIFFERENCE ( S ) CANCERS Familial adenomatous polyposis Familial medullary thyroid cancer Hereditary breast and / or ovarian cancer Hereditary paraganglioma-pheochromocytoma syndrome Juvenile polyposis syndrome Li-Fraumeni syndrome Lynch syndrome Multiple endocrine neoplasia type 1 MUTYH-associated polyposis Neurofibromatosis type 2 Peutz-Jeghers syndrome PTEN hamartoma tumor syndrome Retinoblastoma Tuberous sclerosis complex von-Hippel-Lindau syndrome WT1-related Wilms tumor CARDIOVASCULAR CONDITIONS
Aortopathies ( includes Marfan syndrome ; Loeys-Dietz syndrome , type 1 , 2 , and 3 ; Familial thoracic aneurysms and dissections
Arrhythmogenic right ventricular cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia ( CPVT ) Hereditary paraganglioma-pheochromocytoma syndrome Dilated cardiomyopathy Ehlers-Danlos syndrome , vascular type Lynch syndrome Familial hypercholesterolemia Hypertrophic cardiomyopathy Long QT syndrome types 1 and 2 Long QT syndrome type 3 ; Brugada syndrome METABOLISM CONDITIONS Biotinidase deficiency Fabry disease Ornithine transcarbamylase deficiency Pompe disease MISCELLANEOUS CONDITIONS Hereditary hemochromatosis ( HFE p . C282Y homozygotes only ) Hereditary hemorrhagic telangiectasia Malignant hyperthermia Maturity-onset diabetes of the young RPE65-related retinopathy Wilson Disease
APC RET BRCA1 , BRCA2 , PALB2 MAX , SDHAF2 , SDHB , SDHC , SDHD , TMEM127 BMPR1A , SMAD4 TP53 MLH1 , MSH2 , MSH6 , PMS2 MEN1 MUTYH NF2 STK11 PTEN RB1 TSC1 , TSC2 VHL WT1
ACTA2 , FBN1 , MYH11 , SMAD3 , TGFBR1 , TGFBR2
DSC2 , DSG2 , DSP , PKP2 , TMEM43 CASQ2 , RYR2 , TRDN MAX , SDHAF2 , SDHB , SDHC , SDHD , TMEM127 FLNC , LMNA , TTN , TNNT2 COL3A1 MLH1 , MSH2 , MSH6 , PMS2 APOB , LDLR , PCSK9 ACTC1 , MYBPC3 , MYH7 , MYL2 , MYL3 , PRKAG2 , TNNI3 , TPM1 KCNH2 , KCNQ1 SCN5A
BTD GLA OTC GAA
HFE ACVRL1 , ENG CACNA1S , RYR1 HNF1A RPE65 ATP7B
AGHI GENES TESTED AND THE ASSOCIATED MEDICAL CONDITIONS aghi . org 19