This test should be regarded as 'Research Use Only'. This test has not been cleared or approved by the U.S. Food and Drug Administration. It may not be covered by insurance and providers need to inform all patients of this prior to ordering.
For Medicare patients, an Advanced Beneficiary notice (ABN) is required; for Medicaid patients, a Noncovered Services Waiver is required, and for commercial payers, prior authorization should be obtained.
PCR assay tests for DNA changes at necleotide positions 845 (845G to A) and 187 (187C to G) of the HFE gene, respectively. These alterations result in a cysteine to tyrosine change at amino acid position 282 (C282Y) and a histidine to aspartic acid change at amino acid position 63 (H63D). Utility of DNA testing for hereditary hemochromatosis is in confirmation of a clinical diagnosis of Hereditary Hemochromatosis, evaluation of asymptomatic individuals who have abnormal blood tests for iron stores, and predictive testing of individuals who have a family history of HH and who have received genetic counseling.