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Hereditary Hemochromatosis DNA Mutation Analysis
Test Code35079
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 ACD (yellow-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
Refrigerated: 8 days
Methodology
Fluorescent Restriction Fragment Length Polymorphism • Polymerase Chain Reaction (PCR)
Setup Schedule
Set up: Mon-Sat; Report available: 7 days
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.