Products - Molecular genetic - Molecular genetics - HFE gene (hemochromatosis)

HFE gene (hemochromatosis)

Contact our Molecular Genetic Product Team for further details and information

Disease information

Hemochromatosis is characterized by organ damage due to excess accumulation/deposition of iron. The basic defect lies in the regulatory mechanisms for iron absorption in the small intestines. The HFE gene encodes for a protein that regulates iron absorption in the intestine so that the uptake of iron is in correspondence with the body’s need for iron. Mutations in this gene lead to hemochromatosis which is manifested in the form of liver disease (cirrhosis), increased risk for liver and pancreatic carcinoma, cardiomyopathy and arthropathy. Two types of mutations are recognized: C282Y and H63D. These lead to loss of function of the allele and are directly related to the disease.

Diagnostic Guidelines

EUROArray Hemochromatosis (2 SNP+) Direct is specifically optimized for the determination of the two most frequently encountered disease causing mutations in the HFE gene namely C282Y and H63D. For detection of other rare mutations in the gene, another assay EUROArray Hemochromatosis (4 SNP+) Direct is used. Both of these tests are highly reliable, ensured by adding unique controls in the test systems. These controls look for additional mutations in the vicinity of the target gene which can affect the binding of probes and alter tests results. Thus through this unique strategy, our test systems ensure the results are highly precise and reliable.

These direct methods are directly employed on blood samples, eliminating the need for time-consuming and cost-intensive DNA isolation.

HFE gene (hemochromatosis) products

The individual product regulatory statements may vary, please refer to the instructions for use for more information.

wdt_ID Method Parameter
768 EUROArray EUROArray Haemochromatosis (4 SNP+)
769 EUROArray EUROArray Haemochromatosis (2 SNP+)
Method Parameter
Contact our Molecular Genetic Product Team for further details and information

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