Algorithm for the follow-up of HFE genetic test results

This algorithm is only intended to provide guidance for individuals who have had genetic testing for HFE, the principal gene responsible for hereditary hemochromatosis (HH). It is not intended to imply that genetic screening is appropriate in the general population.

• Any results that are obtained by direct-to-consumer testing or for a research study and that are considered clinically actionable should be repeated in a Clinical Laboratory Improvements Amendment (CLIA)-certified clinical laboratory with proper patient identification, review of the testing method, and review of the specific variant(s) tested.
• For individuals considered to be at risk for iron overload due to a positive family history or abnormal iron studies, any additional testing or interventions are done with shared decision-making with the tested individual and input from other treating clinicians.
• Repeat iron studies at a later date may be appropriate for individuals with an increased risk for iron overload who do not have evidence of iron overload when tested in young adulthood (<40 for men or before menopause for women).

Refer to UpToDate for other aspects of the evaluation for suspected iron overload.