Hemochromatosis gene screening test

Screening tests help your doctor look for a certain disease or condition before any symptoms appear. This can increase your chance of finding the problem at a curable or more treatable stage.

Hemochromatosis gene (HFE) testing is done to check to see if a person is likely to develop hereditary hemochromatosis. This test checks whether you are a carrier of the defective gene that causes hemochromatosis. HFE testing locates gene mutations that are called C282Y and H63D. The test can usually confirm whether a person has an increased chance for having hereditary hemochromatosis.

HFE testing identifies a genetic risk rather than the disease itself. Even if you have one or more HFE gene mutations, you may never get sick.

HFE testing is used to find out if a person has an increased chance of having hemochromatosis. It is often recommended for people who have a close family member—parent, brother, sister, or child—with this disease.

This test might be done if you have high iron levels in your blood. This test helps to find out if you have hemochromatosis.

HFE testing locates and identifies mutations in the HFE genes. These gene mutations are called C282Y and H63D.

You might have a cheek test or a blood test.

Cheek test

A health professional gently swabs or scrapes the inside of your cheek to get a sample of cells.

Blood test

A health professional uses a needle to take a blood sample, usually from the arm.

Generally, no special preparation is required before having a hemochromatosis gene test.

Genetic test results often have ethical, legal, or social implications. You may want to talk to a genetic counselor before making a decision about testing. Genetic counselors are trained to explain the test and its results clearly. A genetic counselor can help you make well-informed decisions.

Talk to your doctor about any concerns you have regarding the need for the test, its risks, how it will be done, or what the results will mean.

The HFE screening test is very accurate in finding the common mutations in the HFE gene. Most hereditary hemochromatosis is caused by changes in this gene. But in a few cases, the condition is caused by other genes. And other genetic tests may be done to find these genes.

Even if you have HFE mutations, you may not have the disease. Or you may have the disease, but gene testing did not find the mutations that are causing the disease.