Hemochromatosis Gene Test (HFE Test)

HFE Test (Hemochromatosis Gene Test)

What To Think About

  • If you are thinking about having genetic testing, talk with your doctor about the benefits as well as the possibility of insurance, employment, or other discrimination based on test results. An HFE test result is private information. Ask your doctor who else might see your results to make sure your information remains private.
  • The information obtained from an HFE test can have a big impact on your life. Genetic counsellors are trained to help you understand your chance for having a child with an inherited (genetic) disease. A genetic counsellor can help you make well-informed decisions. Ask to have genetic counselling before making a decision about HFE testing.
  • HFE testing is not able to predict whether you will have hemochromatosis. Although the test locates the most common HFE mutations, there may be other HFE mutations that the test does not find. You may have HFE mutations and not have the diseases or you may have symptoms of the disease but gene testing is does not find any mutations.1
  • HFE gene testing may identify the cause of high iron levels and eliminate the need for other tests, such as a liver biopsy.
  • Iron and ferritin levels may also be checked at the same time as a hemochromatosis gene test. For more information, see the medical tests Iron and Ferritin.

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Author: Jan Nissl, RN, BSLast Updated: June 20, 2007
Medical Review: Anne C. Poinier, MD - Internal Medicine
Brian Leber, MDCM, FRCPC - Hematology

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Topic Contents
 Test Overview
 Why It Is Done
 How To Prepare
 How It Is Done
 How It Feels
 Risks
 Results
 What Affects the Test
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 References
 Credits