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Single Gene test: HFE
Test Information
- Title
-
Single Gene test: HFE
- Category
- Hematology, Limited Access
- Test Name (CMS Title)
-
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, Carrier Cascade Testing
- Test Methodology
- PCR-RFLP
- Methodology Notes
-
Restriction digestion; Targeted Variant
- Disease/Condition
-
Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis
Last Updated: December 09, 2025
