The HMD-HFE (hereditary hemochromatosis) gene mutation test is done to identify whether an individual has inherited a specific genetic mutation that can cause the body to absorb and store excess iron leading to hemochromatosis.
When this test is required
This test is requested when an individual has a family history of hemochromatosis or when the individual has symptoms of the condition like joint pain, abdominal pain, fatigue, etc.
What the Test Detects
The test is used to identify mutations in the HFE gene, specifically, the C282Y and H63D mutations. These mutations are the most common causes of hereditary hemochromatosis.
Preparation for the Test
No special preparation is required for the test.
Sample Requirements
The test requires a blood sample.
Additional Notes
The presence of the HFE gene mutation does not necessarily mean that an individual will develop hemochromatosis. The test results should be interpreted in conjunction with other clinical and laboratory findings. The test may not detect all cases of hemochromatosis. A negative result does not completely rule out the possibility of the disease.
