Hemochromatosis : HFE Targeted Analysis

Test Information

HFE targeted analysis is a molecular test used to identify the common C282Y and H63D variants in the gene associated with Hemochromatosis.

Turnaround Time

1 week

CPT Code(s)





Clinical Information

Hemochromatosis is a common inherited disorder of iron metabolism seen in, but not limited to, people of European descent. The recessively inherited disorder has a carrier frequency of 1/8 individuals and affects 1/250. Premature death may be caused by complications of chronic liver disease, hepatocellular carcinoma, or heart failure if the disease goes untreated. Early detection and treatment with routine phlebotomy can prevent these severe complications. For this reason, testing for hemochromatosis molecular testing is recommended in individuals with abnormal iron studies. Elevations in serum iron levels, transferrin saturation, and ferritin are often noted in patients with hemochromatosis. The molecular diagnosis of hemochromatosis involves an assay to detect two mutations within the Hfe (HLA-H) gene. Both the C282Y and H63D mutations have been associated with the clinical diagnosis of hemochromatosis, with the C282Y genotype being more penetrant.


Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.


Homozygosity for C282Y will be identified in 60-90% of individuals with hemochromatosis
Compound heterozygosity for C282Y and H63D will be seen in 3-8% of individuals with hemochromatosis
Homozygosity for H63D will be found in approximately 1% of patients.

Specimen Requirements

The preferred sample type is peripheral blood collected in an EDTA (purple top) tube – at least 2-3ml for pediatric patients and 5-6ml for adult patients. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Molecular Testing, Targeted Analysis
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