What is hemochromatosis DNA testing?

Hemochromatosis DNA testing identifies the presence or absence of three mutations in the HFEgene – C282Y (c.845G>A), H63D (c.187C>G) and S65C (c.193A>T). These three mutations account for approximately 85% of all cases of hereditary hemochromatosis.

Each person carries two copies of the HFE gene, one inherited from each parent. If a person inherits one normal copy of the HFE gene and one mutated copy, they are known as a heterozygote or carrier and only have a low risk of developing hemochromatosis.

Homozygotes have inherited two copies of HFE that both carry the same genetic mutation. Compound heterozygotes inherit two mutated HFE genes, but each copy has a different genetic mutation. Homozygotes and compound heterozygotes have an increased risk of hemochromatosis.

This hemochromatosis DNA test is able to determine whether an individual is a homozygote, heterozygote, compound heterozygote or does not carry any of the HFE mutations.

DNA Hemochromatosis Test

Determine if you carry the genes linked to iron overload.

Web apps are available to users who have taken the test.

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