Hereditary Hemochromatosis, DNA Analysis

Whole blood or Labcorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)

7 mL whole blood or Labcorp buccal swab kit

3 mL whole blood or two buccal swabs

Lavender-top (EDTA) tube, yellow-top (ACD) tube, or Labcorp buccal swab kit

Aids in the identification of individuals at risk for symptoms of hemochromatosis due to variants in the HFE gene.

Results should be combined with clinical information for the most accurate interpretation. Molecular-based testing is highly accurate, but as in any laboratory test, rare diagnostic errors may occur. False positive or false negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Three variants are analyzed: c.845G>A (p.Cys282Tyr), commonly referred to as C282Y; c.187C>G (p.His63Asp), commonly referred to as H63D; c.193A>T (p.Ser65Cys), commonly referred to as S65C. DNA Analysis of the HFE gene (NM_000410.4) is performed by PCR amplification followed by restriction enzyme digestion analyses.

Hereditary hemochromatosis (HFE related) is an autosomal recessive iron storage disorder. Patients may have a genetic diagnosis of hereditary hemochromatosis and never show clinical symptoms. Clinical symptoms typically appear between 40 to 60 years in males and after menopause in females. Signs and symptoms may include organ damage, primarily in the liver, risk for hepatocellular carcinoma, diabetes, and heart disease due to iron accumulation. Life expectancy may be decreased in individuals who develop cirrhosis. Treatment for clinically symptomatic individuals may include therapeutic phlebotomy. Liver transplant may be used to treat end stage liver failure. For preventive care, monitoring for iron overload is recommended for patients who are homozygous for c.845G>A (p.Cys282Tyr) and have yet to experience clinical symptoms. The most common HFE variants associated with hereditary hemochromatosis are c.845G>A (p. Cys282Tyr), c.187C>G (p.His63Asp), c.193A>T (p. Ser65Cys). While patients homozygous for c.845G>A (p.Cys282Tyr) are the most likely to present clinical symptoms, less than 10% develop clinically significant iron overload with tissue and organ damage. Genetic coordinators are available for health care providers to discuss results and for information on how to order additional testing, if desired, at 1-800-345-GENE.