Solution reagent kit Genvinset® HFE

diagnosticfor mutation detectioniron

Kit for detecting C282Y and H63D mutations in the HFE gene by real-time PCR using TaqMan® probes technology Information about the product Hereditary hemochromatosis (HH) is an inherited autosomal recessive disorder of iron metabolism. Most HH cases (52-96%) in the European regions are associated with a homozygous mutation at position 845 (G—›A) in exon 4 of the HFE gene (rs1800562), which results in an amino acid change at position 282 from cysteine to tyrosine (C282Y). A second mutation that is frequently detected occurs at position 187 (C—›G) in exon 2 of the HFE gene (rs1799945), wherein the amino acid histidine is replaced by aspartic acid at position 63 (H63D). The contribution of this allele to iron overload is most relevant in the case of combined heterozygosity with allele C282Y (C282Y/H63D). INTENDED USE Genvinset® HFE multiplex is a semi-automated in vitro diagnostic kit qualitative detection of the C282Y mutation (NCBI dbSNP rs1800562; NM_000410.4:c.845G>A) and H63D mutation (NCBI dbSNP rs1799945; NM_000410.4:c.187C>G) associated with hereditary hemochromatosis, in the HFE gene (OMIM: 613609) in genomic DNA extracted from whole blood using Real-Time PCR technology with specific TaqMan® probes. The patient referred by the corresponding health specialist (haematologist) and taking into account the compatibility of the symptoms presented; joint pain, abdominal pain, fatigue, weakness, heart failure, liver failure, bronze-coloured skin, and/or his family history (for example, a direct ascendant diagnosed with hereditary hemochromatosis) may be subject to the determination of mutations in the HFE gene.