HFE gene (hemochromatosis) Products

Information

Hereditary haemochromatosis is the most frequent autosomal recessive disorder of metabolism and is based on an increased iron absorption in the upper small intestine. It may cause irreversible damage with risk of cardiomyopathy, arthropathy, and liver and pancreas carcinoma. Two mutations in the HFE gene (C282Y and H63D) may lead to a loss or a reduction of the physiological function of the Hfe protein.

Diagnostic Guidelines

The EUROArray Hemochromatosis (2 SNP+) Direct is especially optimized for the reliable determination of the two most frequent mutations in the HFE gene that may be associated with hemochromatosis; C282Y and H63D. Comprehensive determination, taking into account rare mutations are enabled by the EUROArray Hemochromatosis (4 SNP+) Direct test system, which encompasses the analysis ofC282Y, H63D, S65C and E168X. Both analyses are extremely easy to perform.

The direct method enables the direct use of whole blood samples and eliminates the need for time and cost-intensive DNA isolation. With the EUROArray Hemochromatosis (4 SNP+ or 2 SNP+) Direct, highest reliability of results is ensured for rare genotypes. For this cause, the test system contains unique controls that show if further mutations are detected in the DNA in direct vicinity to the sequence variants investigated, which may interfere with the binding to the probes and thus affect the determination.

Hemochromatosis Direct products

For Research Use Only. Not For Use In Diagnostic Procedures.
The individual product regulatory statements may vary, please refer to the instructions for use for more information.

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