Haemochromatosis
| Test Information | |
|---|---|
| Test Name | Haemochromatosis |
| Lab (Location) | North York General Hospital |
| Category | Hematology |
| Subcategory | Hereditary Hemochromatosis |
| Gene/Platform/Region List | HFE (c.187C>G), HFE (c.845G>A) |
| 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 |