Single Gene test: HFE
| 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. |