Hereditary Hemochromatosis, DNA Analysis
Fasting Required: No

Specimen: Blood

Lab: Quest Diagnostics

Results: 10-14 business days
Note: Result turnaround times are an estimate and are not guaranteed. Our reference lab may need additional time due to weather, holidays, confirmation/repeat testing, or equipment maintenance.

Limitations: Expression of C282Y/C282Y homozygosity is variable. Some individuals who fail to meet the diagnostic criteria for hemochromatosis are homozygous for the gene. If these mutations are not found by the testing procedure, it does not mean that the risk of carrying or developing HH is not present. It simply means that these specific mutations have not been found, although other mutations may be present. It is also possible that such a patient may have secondary hemochromatosis, due to nongenetic causes, that would not be detected by this test.

Description: Hereditary hemochromatosis (HH) is an iron metabolism disorder resulting in the accumulation of excess iron in a variety of organs.

This assay detects only the C282Y and H63D and mutations in the HFE gene and will help identify those who are at increased risk for hereditary hemochromatosis. Increased risk for inherited hemochromatosis can be caused by a variety of factors not detected by this test.

Alternative Name(s): HLA-H, HFE, Hemochrom HFE Gene Analysis, Blood, Hemochromatosis Hereditary DNA, H63D, Hemochromatosis,C282