Genetic Test Details
Single Gene test: HFE
Test Information
- Titre
-
Single Gene test: HFE
- Catégorie
- 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
- Blood, DNA
- Indications
- Diagnostics, Carrier Cascade Testing
- 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
Dernière Mise à Jour: 05 septembre 2025