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, Molecular, Hemochromatosis Variants

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 variants not detected, heterozygous or homozygous for the p.H63D and/or p.C282Y variants.

Minimum Specimen Requirements

Collect

• Peripheral blood (PB): 1-3 mL, in purple top (sodium 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

Six working days

View Requisition Sheet