Hereditary Hemochromatosis

Hereditary hemochromatosis is a genetic condition characterized by excessive iron absorption and storage in the body. This condition is relatively common among the general population, with roughly one in every 200 people affected. Additionally, one in every 10 Caucasian individuals are mutation carriers. This test analyzes the C282Y and H63D mutations of the HFE gene. These two mutations account for greater than 90 percent of all hereditary hemochromatosis cases.

Indications for Testing

  • Elevated blood transferrin
  • Hepatomegaly
  • Hepatic cirrhosis
  • Hepatocellular carcinoma
  • Diabetes Mellitus
  • Cardiomyopathy
  • Hypogonadism
  • Arthritis
  • Progressive hyperpigmentation

Sample Requirements

3 – 4 mL whole blood in purple top EDTA tube.

Sample Handling

Blood samples stored overnight should be refrigerated or kept cold. Blood samples should never be frozen. Specimens being sent from outside facilities should be packaged with a cold pack according to standard medical safety practices. The specimen should be shipped by overnight priority [scheduled to arrive by Friday morning at the latest].

Shipping Address

Center for Human Genetics Laboratory
10524 Euclid Ave, Sixth Floor
Cleveland, OH 44106

For local samples, please call Client Service (216-844-5227) to arrange for sample pick-up.

Turnaround Time

Three to nine days

CPT Code


Please submit a completed Molecular Requisition for each sample.