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