Hemochromatosis

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

Specimen Requirements

5.0 mL Whole Blood in a Lavender Top Tube - EDTA

Transport And Storage

8 days Ambient
8 days Refrigerated
Unacceptable Frozen

Specimen stability is crucial. Store and ship room temperature immediately.

Collection Instructions

Minimum Volume

3.0 mL Whole Blood

Neonatal Volume

Reference Range:

Refer to Interpretive Results

Methodology:

• Fluorescent Restriction Fragment Length Polymorphism
• Polymerase Chain Reaction (PCR)

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

CDM

00913003

CPT Coding

81256