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Hemochromatosis Genotype

Test Information

Title
Hemochromatosis Genotype
Category
Hematology
Test Name (CMS Title)
Hereditary Hemochromatosis
Gene/Platform/Region List

HFE (c.187C>G), HFE (c.845G>A)

Test type
Targeted Variant
Samples Accepted
Blood, DNA
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes

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: December 09, 2025