Homocysteine reagent kit Genvinset® MTHFR

geneticgenomic DNA

Kit for multiplex detection of both A1298C and C677T polymorphisms in the MTHFR gene by real-time PCR using TaqMan® probes technology. Information about the product Idiopathic recurrent pregnancy loss (RPL) is a frequent obstetric complication, and an estimated 1-2% of women will suffer three or more miscarriages during their reproductive age, while almost 5% of women will suffer two or more RPLs. While the exact causes of RPL remain undetermined in most cases, genetic predisposition to venous thrombosis and elevation in total homocysteine (tHcy) levels (hyperhomocysteinemia) have been described as playing a role in the pathogenesis of RPL. Methylenetetrahydrofolate Reductase (MTHFR) Deficiency is the most common genetic cause of elevated levels of homocysteine in plasma. The best-characterized MTHFR gene polymorphisms are the C677T and the A1298C missense single nucleotide polymorphisms. Individuals with both variants are found to have 50-60% wild-type MTFHR activity and, consequently, double heterozygosity for these two MTHFR polymorphisms is considered a risk factor for hyperhomocysteinemia. INTENDED USE Genvinset® MTHFR multiplex is a semi-automated kit for the in vitro qualitative detection of the A1298C polymorphism (NCBI dbSNP rs1801131; NM_001330358.2:c.1409A>C) and the C677T polymorphism (NCBI dbSNP rs1801133; NM_001330358.2:c.788C>T) in the Methylene tetrahydrofolate reductase (MTHFR) gene (OMIM: 607093) in genomic DNA extracted from whole blood using Real-Time PCR technology with specific TaqMan® probes. The patient referred by the corresponding health specialist (reproductive clinician) and taking into account the compatibility of the symptoms presented;