
Hereditary Hemochromatosis
Test Information | |
---|---|
Test Name | Hereditary Hemochromatosis |
Lab (Location) | University Health Network |
Category | Hematology |
Subcategory | Hereditary Hemochromatosis |
Gene/Platform/Region List | HFE (p.Cys282Tyr), HFE (p.His63Asp) |
Test type | Targeted Variant |
Samples Accepted | Blood, DNA, Saliva |
Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
Test Methodology | Sequencing |
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 |