Hemochromatosis (2 mutations)
- 15 min15 minutes
- 139 British pounds£139
- 305 Neasden Lane, London NW10 1QR, UK
This test involves the use of Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) to detect hemochromatosis which is a genetic disorder characterised by the excessive accumulation of iron in the body. The test seek to detect the following 2 most common HFE gene mutations: - Cys282Tyr ( or C282Y) - His63Asp (or H63D) The C282Y mutation is the most common and is found in about 85% of people with hereditary hemochromatosis. It causes the body to absorb too much iron from the diet, leading to iron overload and potential organ damage. The H63D mutation is less common than the C282Y mutation, but it can also cause the body to absorb too much iron. People who inherit two copies of the H63D mutation are at a higher risk of developing hemochromatosis than those who inherit just one copy. It's important to note that not everyone with these mutations will develop hemochromatosis, and other factors such as diet and environmental exposures can also contribute to iron overload. However, if someone has a family history of hemochromatosis or is experiencing symptoms of iron overload, testing for these mutations can help with diagnosis and management of the condition.
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305 Neasden Lane, London NW10 1QR, UK