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Hereditary Hemochromatosis DNA Mutation Analysis

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)

EDTA (lavender-top) tube

Preferred Specimens
Whole blood
Minimum Volume (uL)
Collection Instructions
(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.