Single Genetests (HFE)

Test Information

Title
Single Genetests (HFE)
Lab
Category
Hematology
Test Name (CMS Title)
Hereditary Hemochromatosis
Gene/Platform/Region List
HFE
Test type
Targeted Variant
Samples Accepted
Blood, DNA
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Targeted Mutation: p.Cys282Tyr, p.His63Asp; Mutation-specific assay
Disease/Condition
Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

Last Updated: November 14, 2025

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