What is HFE screening?
Test Overview Hemochromatosis gene (HFE) testing is a blood test used to check for hereditary hemochromatosis, an inherited disorder that causes the body to absorb too much iron. The iron then builds up in the blood, liver, heart, pancreas, joints, skin, and other organs.
What is HFE hemochromatosis?
Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body’s tissues and organs, particularly the skin, heart, liver , pancreas , and joints.
What tests are used to diagnose hemochromatosis?
The blood tests you have may include transferrin saturation (TS), serum ferritin level, and liver function tests. Transferrin is a protein that carries iron in the blood. The TS test shows how much iron the transferrin is carrying. This helps your doctor find out how much iron is in your body.
What diagnostic test is the gold standard for hemochromatosis?
Liver biopsy remains the gold-standard diagnostic test for hemochromatosis. However, its use has now shifted from that of a major diagnostic tool to that for estimating prognosis and concomitant disease.
How common is HFE?
Although the prevalence of end-organ damage secondary to HFE-associated HH (HH-HFE) is relatively low, the p. C282Y mutation is highly prevalent, with a prevalence of 1:200 to 1:250 for p. C282Y homozygozity and 1:8 to 1:12 for p. C282Y heterozygozity among populations of northern European ancestry.
How much does an HFE test cost?
Using Push Health, you can easily request a Hereditary Hemochromatosis DNA test from a licensed medical provider, get tested at a lab near you, and get results electronically. The total fees are $143.11 and include the lab order, lab fees and an electronic copy of the results.
What is the function of the HFE gene?
Normal Function The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells. The HFE protein is also found on some immune system cells. The HFE protein interacts with other proteins on the cell surface to detect the amount of iron in the body.
Can a negative HFE test confirm hemochromatosis?
Clinical Information. Molecular testing can be done to confirm the diagnosis. The majority of HH patients have mutations in the HFE gene. Clinically significant iron overload also can occur in the absence of known HFE mutations, so a negative HFE test does not exclude a diagnosis of iron overload or hemochromatosis.
Which is HFE mutations are at risk for hereditary hemochromatosis?
This assay detects only the C282Y, H63D, and S65C mutations in the HFE gene and will help identify those who are at increased risk for hereditary hemochromatosis. Increased risk for hereditary hemochromatosis can be caused by a variety of genetic and nongenetic factors not detected by this assay.
Can a negative HFE test indicate iron overload?
Clinically significant iron overload also can occur in the absence of known HFE mutations, so a negative HFE test does not exclude a diagnosis of iron overload or hemochromatosis. The most common mutation in the HFE gene is C282Y (exon 4, 845G->A).
How is HFE gene analysis, blood useful in clinical settings?
Hemochromatosis HFE Gene Analysis, Blood Useful For Suggests clinical disorders or settings where the test may be helpful Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request Testing Algorithm Delineates situations when tests are added to the initial order.
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