Hereditary Hemochromatosis DNA Mutation Analysis : 35079

Test Code

HHDMAQ or 35079

Alias/See Also

HLA-H; HFE; Hemochrom HFE Gene Analysis; Hemochromatosis Hereditary; H63D; C282

CPT Codes
81256

Instructions

Lavender (EDTA) or yellow (ACD Solution A or B).

Transport Container

Transport 5 mL whole blood, (Min: 3 mL).

Transport Temperature

Refrigerated.

Specimen Stability

Ambient: 8 days; Refrigerated: 8 days; Frozen: Unacceptable

Methodology
Fluorescent Restriction Fragment Length Polymorphism, Polymerase Chain Reaction (PCR)

Setup Schedule

Monday - Saturday

Report Available

8 - 10 days (From receipt at performing laboratory)

Limitations

This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Reference Range

By report.

Clinical Significance

Hereditary Hemochromatosis is an autosomal recessive disease that results in an abnormal build-up of iron in the body. The C282Y and H63d are among the most common mutations in patients with hereditary hemochromatosis. Penetrance of the mutations (phenotypic disease), including by individuals with compound heterozygous mutations, is variable.

Performing Laboratory
Quest Diagnostics

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.