Hereditary hemochromatosis (HH) is an autosomal recessive inherited disorder of iron metabolism. Due to excessive intestinal absorption, iron accumulates in the parenchymal cells of the liver, pancreas, heart and other organs resulting in damage to its structure and its function impaired. Although the disease symptoms are often non-specific, much of the organ damage is irreversible once it has occurred. Early detection and treatment is therefore very important as part of preventive medicine.
A number of different HFE mutations have been described. Most cases in the European regions are associated with a homozygous mutation at position 845 (G -> A) of exon 4 of the HFE gene, which results in an amino acid change at position 282 from cysteine to tyrosine (C282Y).
Genvinset® HFE C282Y is a semi-automated in vitro diagnostic kit for the qualitative detection of the C282Y mutation (NCBI dbSNP rs1800562; NM_000410.4:c.845G>A), in the HFE gene (OMIM: 613609) associated with primary hemochromatosis, in genomic DNA extracted from whole blood using Real Time PCR technology with specific TaqMan® probes.
Patients who can benefit from this determination are those referred by a specialist. The results of this test should not be the only ones on which the therapeutic decision is based and should be used as an aid in the diagnosis together with results of other markers of the disease.
The intended user of the kit is technical personnel trained to carry out the protocol and the interpretation of results described in the instructions for use.
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