CPT/HCPCS
81256
Order Code
CH469
Turnaround Time
10 days
Test Includes
Components: HFE gene targeted mutation analysis
Specimen Requirements
Specimen Source
Whole blood
Transport Container
(Specimen Container)
(Specimen Container)
EDTA (lavender-top) tube
Preferred Specimens
Whole blood
Minimum Volume (uL)
5mL
Collection Instructions
(Transport Temperature)
(Transport Temperature)
Transport at Room Temperature
Specimen Stability
| Temperature | Period |
|---|---|
| Room temperature | 8 days |
| Refrigerated | 8 days |
| Frozen | Unacceptable |
Reject Criteria
Received frozen
Special Instructions
Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze
Test Details
Clinical Significance
Hereditary Hemochromatosis DNA Mutation Analysis – 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.
