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Hereditary Hemochromatosis DNA Mutation Analysis
Test CodeHHEMO
CPT Codes
81256
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL
Other Acceptable Specimens
Whole blood collected in sodium heparin (green-top) tube
Instructions
Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Refrigerated: 8 days
Frozen: Unacceptable
Methodology
Fluorescent Restriction Fragment Length Polymorphism • Polymerase Chain Reaction (PCR)
FDA Status
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.
Setup Schedule
Monday-Saturday Morning Report available: 8 Days
Reference Range
See Laboratory 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 Nichols Institute-San Juan Capistrano, CA |
| 33608 Ortega Highway |
| San Juan Capistrano, CA 92675-2042 |
