Hemochromatosis

Test Information
Test Name Hemochromatosis
Lab (Location) Kingston General Hospital
Category Hematology
Subcategory Hereditary Hemochromatosis
Gene/Platform/Region List HFE (p.Cys282Tyr), HFE (p.His63Asp)
Test type Targeted Variant
Samples Accepted Blood, DNA
Indications Diagnosis Diagnosis, Carrier / Cascade Testing
Test Methodology Real Time PCR
Methodology Notes Targeted Mutation: p.Cys282Tyr, p.His63Asp
Diseases/Conditions Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis