Genetic Test Details
Single Gene test: HFE
Test Information
- Title
- Single Gene test: HFE
- Category
- Hematology
- Sub Category
- Hereditary Hemochromatosis
- Gene/Platform/Region List
- HFE (c.845G>A (p.C282Y)), HFE:c.187C>G (p.H63D)
- Test type
- Targeted Variant
- Samples Accepted
- DNA , Blood
- Indications
- Carrier Cascade Testing , Diagnosis
- Test Methodology
- PCR-RFLP
- Methodology Notes
- Restriction digestion; Targeted Mutation: p.Cys282Tyr, p.His63Asp
- Disease/Condition
- Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis
Last Updated: June 23, 2025