8002

GTD Indications Diagnosis Carrier / Cascade Testing GTD Samples Accepted Blood DNA GTD Test Methodology PCR-RFLP GTD Methodology Notes Restriction digestion; Targeted Mutation: p.Cys282Tyr, p.His63Asp GTD Notes Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient. Generic Test name (cms title) Hereditary Hemochromatosis GTD Test type Targeted Variant GTD Location Sunnybrook Health Sciences Centre GTD Gene/Platform/Region List HFE (c.845G>A (p.C282Y)), HFE:c.187C>G (p.H63D) GTD Category Hematology GTD Disease/Condition Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis