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 1 in every 200 people affected, and 1 in every 10 Caucasian individuals as mutation carriers. This test includes the C282Y and H63D mutations of the HFE gene. These two mutations account for greater than 90% 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: 5-7 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 AM at the latest].
Shipping Address: Center for Human Genetics Laboratory
10524 Euclid Ave, 6th Floor
Cleveland, OH 44106
216-983-1134
For local samples, please call the Center for Human Genetics Laboratory (216-983-1134) to arrange for sample pick-up.
Turn Around Time: 3-9 days
Cost/CPT codes: $297.50 / 83890, 83892, 83894, 83900(x2), 83912