Genetic Test Details

Haemochromatosis

Test Information

Title
Haemochromatosis
Category
Hematology
Sub Category
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
Real Time PCR
Methodology Notes

Targeted Mutation: p.Cys282Tyr, p.His63Asp

Disease/Condition

Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis

Last Updated: November 26, 2025