Hemochromatosis (HFE) 2 Variants Analysis by Real-Time PCR

CPT Code(s)

81256, G0452

Synonym(s)

HFE Gene Analysis; Hereditary Hemochromatosis (C282Y and H63D mutation), Hereditary Hemochromatosis DNA Mutation Analysis

Performed

Molecular Diagnostics Laboratory

Clinical Indication and Relevance

The assay is useful for patients with iron overload, and/or a family history of hereditary hemochromatosis. 

Methodology

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

Collect

• Peripheral blood (PB): 3-5 mL, in purple top (EDTA) tube
• Yellow top (ACD) tube also acceptable

 

Transport
Room temperature or 2-8°C (wet ice or cold packs). Do not freeze.

Stability
Room temperature: 8 hours. Refrigerated: 48 hours.

Unacceptable Samples
Serum or plasma; frozen PB or BM; clotted blood; severely hemolyzed samples.

Turnaround time

Five to seven working days

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