5018

GTD Indications Diagnosis Carrier / Cascade Testing GTD Samples Accepted Blood DNA GTD Test Methodology CNV Sequencing GTD Methodology Notes Targeted Mutation: p.Cys282Tyr, p.His63Asp
Generic Test name (cms title) Hereditary Hemochromatosis GTD Test type Targeted Variant GTD Location Mount Sinai Hospital GTD Gene/Platform/Region List HFE (c.187C>G), HFE (c.845G>A)
GTD Category Hematology GTD Disease/Condition Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis