Hemochromatosis (HFE) 2 Variants Analysis by Real-Time PCR
HFE Gene Analysis; Hereditary Hemochromatosis (C282Y and H63D mutation), Hereditary Hemochromatosis DNA Mutation Analysis
Molecular Diagnostics Laboratory
Clinical Indication and Relevance
The assay is useful for patients with iron overload, and/or a family history of hereditary hemochromatosis.
DNA is isolated from the patient sample and regions of the HFE gene are amplified by real-time PCR and the p.H63D and p.C282Y variants are detected by the allelic discrimination method. Results are reported as normal, heterozygous or homozygous for the p.H63D and/or p.C282Y variants.
Minimum Specimen Requirements
- Peripheral blood (PB): 3-5 mL, in purple top (EDTA) tube
- Yellow top (ACD) tube also acceptable
Room temperature or 2-8°C (wet ice or cold packs). Do not freeze.
Room temperature: 8 hours. Refrigerated: 48 hours.
Serum or plasma; frozen PB or BM; clotted blood; severely hemolyzed samples.
Five to seven working daysView Requisition Sheet