Genetic Test Details

Single Gene test: HFE

Test Information

Title
Single Gene test: HFE
Category
Hematology, Limited Access
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
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: January 06, 2026