The GNT. Hemochromatosis (HFE) evaluates variants of the HFE gene associated with hereditary hemochromatosis, an autosomal recessive disorder of iron metabolism that causes iron overload due to increased intestinal absorption. Excess iron is deposited in organs such as the liver, pancreas, heart, and joints, and can cause liver disease, diabetes, cardiomyopathy, and arthropathy.

Its objective is to identify genetic predisposition to hemochromatosis to guide the differential diagnosis of hyperferritinemia, family screening, and follow-up/therapeutic measures (e.g., periodic phlebotomies), always in correlation with biochemical parameters (ferritin, transferrin saturation) and clinical findings.

Performing this test requires a medical prescription. The requesting healthcare professional must ensure the patient receives appropriate genetic information and counseling, as well as the correct clinical interpretation of the results.