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.