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HFE Genetic Testing

Important Facts About HFE Genetic Testing

Genetic testing of the HFE gene is available to confirm the diagnosis of HFE hemochromatosis in individuals with clinical symptoms consistent with hemochromatosis and / or biochemical evidence of iron overload. Genetic testing is also highly recommended for first degree relatives of individuals affected with the disease.

  • HFE genetic testing can be performed on either blood or buccal (mouth) swab samples.
  • DNA testing for the mutations associated with hereditary hemochromatosis will give you a prediction of your risk for hemochromatosis and will also provide information about the statistical probability of your children inheriting the risk.
  • The absence of mutations associated with hemochromatosis nearly excludes the possibility of hereditary hemochromatosis (excellent negative predictive value).*
  • The penetrance of the HFE mutations is not 100%. That means that if you test positive for two copies of the defective gene, you are at increased risk of developing hemochromatosis, but it does not mean that you will definitely develop hemochromatosis.
  • The type and number of HFE mutations affects your risk of developing hemochromatosis. Two copies of the C282Y mutation carries more risk than one copy of C282Y and one copy of H63D or S65C.
  • Hemochromatosis is the most common genetic disease in individuals of Celtic and European ancestry. 1 in 8 individuals are carriers of at least one of the HFE mutations associated with hemochromatosis.
  • About 87% of individuals of Celtic and European origin who are clinically affected by hereditary hemochromatosis are either homozygous for the C282Y mutation or compound heterozygotes for the C282Y and H63D mutations.
  • Clinical disease is more common among at-risk siblings of clinically affected individuals.
  • DNA testing for hemochromatosis can be performed through a provincial health laboratory and become part of a person’s health records, or else patients can choose private confidential genetic testing through Genetrack Biolabs at www.hemochromatosisdna.com and receive the results directly from the laboratory.

*A small percentage of clinical cases may be caused by yet unidentified mutations in the HFE gene or another gene, which cannot be ruled out by HFE analysis of C282Y, H63D and S65C.