Test Information |
Test Name |
Single Genetests (HFE) |
Lab (Location) |
Hamilton Health Sciences Centre |
Category |
Hematology |
Subcategory |
Hereditary Hemochromatosis |
Gene/Platform/Region List |
HFE
|
Test type |
Targeted Variant |
Samples Accepted |
Blood, DNA |
Indications Diagnosis |
Diagnosis, Carrier / Cascade Testing |
Test Methodology |
Sequencing |
Methodology Notes |
Targeted Mutation: p.Cys282Tyr, p.His63Asp; Mutation-specific assay
|
Diseases/Conditions |
Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis
|