12020

GTD Indications Diagnosis Carrier / Cascade Testing GTD Samples Accepted Blood DNA Saliva GTD Test Methodology Sequencing GTD Methodology Notes Targeted Mutation: p.Cys282Tyr, p.His63Asp GTD Notes Saliva samples must be provided in oragene, OG-600 kits; UHN does not provide collection kits but they can be obtained directly from DNA genotek (www.dnagenotek.com) Generic Test name (cms title) Hereditary Hemochromatosis GTD Test type Targeted Variant GTD Location University Health Network GTD Gene/Platform/Region List HFE (p.Cys282Tyr), HFE (p.His63Asp) GTD Category Hematology GTD Disease/Condition Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis