Hereditary Hemochromatosis DNA Analysis details
What Hereditary Hemochromatosis DNA Analysis shows
This is a genetic test for the most common mutations that cause hereditary hemochromatosis, a condition in which the body absorbs too much iron from food, leading to gradual iron buildup in the liver, heart, pancreas, joints, and other organs, which can cause serious damage if not identified and managed (usually through regular blood removal, called phlebotomy) over time. It's typically ordered when iron studies (like elevated ferritin and high transferrin saturation) suggest iron overload, or in family members of someone diagnosed with hereditary hemochromatosis, since it's an inherited condition.
Tests that include Hereditary Hemochromatosis DNA Analysis
Hereditary Hemochromatosis is an autosomal recessive disease that results in an abnormal build-up of iron in the body. The C282Y and H63D are among the most common mutations in patients with hereditary hemochromatosis. Penetrance of the mutations (phenotypic disease), including by individuals with compound heterozygous mutations, is variable.
- Hereditary Hemochromatosis DNA Analysis A genetic test for mutations that cause hereditary hemochromatosis, a condition that leads to excess iron absorption and buildup in the body.
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