Hereditary Hemochromatosis, DNA Analysis
Fasting Required: No

Specimen: Blood

Results: 10-14 Business Days

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.

Methodology
Fluorescent Restriction Fragment Length Polymorphism • Polymerase Chain Reaction (PCR)

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.

Clinical Significance
Hereditary Hemochromatosis (HH) is an inherited disorder wherein the body accumulates excess iron. This test establishes HH diagnosis in individuals with abnormal iron study results and identifies at-risk family members.

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

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.