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Rīga Stradiņš University
Scientific Laboratory of Molecular Genetics - Latvia, Rīga
Iron overload in humans is associated with a variety of genetic and acquired conditions. Of these, HFE hemochromatosis (HFE-HC) is by far the most frequent and most well-defined inherited cause when considering epidemiological aspects and risks for iron-related morbidity and mortality. The most common mutations are C282Y and H63D (EASL best practice guidelines, 2010).
Sample DNA or material for DNA isolation. Mutations C282Y and H63D in patients DNA are detected using PCR-RFLP and PAGE.
Negotiable. Depends on many factors: for example, number of samples.