Specimen Requirements
Title
Hemochromatosis, Hereditary (Includes: C282Y, H63D)
Specimen Requirement
Draw blood in a Lavender Top EDTA tube. Send 5.0 mL whole blood (3.0 mL minimum). Room Temperature.
Methodology
Fluorescent Restriction Fragment Length Polymorphism - Polymerase Chain Reaction
Stability
Room temp: 8 days, Refrigerated: 8 days, Frozen: Unacceptable
Reference Range
The reference range is determined by the performing laboratory and will show on the report.
Turnaround
9-11 days performed Monday-Saturday
Clinical Use
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.
Test Code
HHSP