What does hemochromatosis genetic testing involve?
Typically, genetic testing for hereditary hemochromatosis includes a simple blood test for the two most common mutations in the hemochromatosis (HFE) gene. These are named C282Y and H63D. Most laboratories that offer this testing charge a couple hundred dollars, and it may not be covered by your insurance company. If you have two mutations, then you are predisposed to the development of “iron overload” or hemochromatosis. If one mutation is identified, there are two possibilities: • You are only a carrier of hemochromatosis. • You have a second, rare mutation that predisposes to hemochromatosis that was not identified on the genetic test. In either scenario, your doctor should use your iron levels to determine whether you should be treated.
