Genetic Disorders


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CVD6 Multiplex Real Time, code AA1397/48

Code AA1397/48

KIT Name: CVD6 Multiplex Real Time  

Description: The kit provides reagents for the genotyping of six simultaneous different mutations and polymorphisms involved in deep arterial and venous thrombosis: Factor V G1691A, Factor V H1299R, Factor II G20210A, MTHFR C677T, MTHFR A1298C, PAI-1 4G/5G, through the amplification of target sequences and melting courve analysis. Needed enzymes included.
Venous thrombosis is among the three most common cardiovascular diseases and involves approximately 1 in 1,000 individuals each year. The thrombotic risk is determined by both environmental factors (age, surgery, pregnancy, oral contraception) and a genetic predisposition. For example, the G> A mutation at position 1691 in the coagulation factor V (FV Leiden - R506Q) gene was found with a high frequency (20-60%) in patients with thrombosis. Other mutations in the Factor V gene, such as the HR2 haplotype (H1299R) which involves the replacement A> G at nucleotide 4070, cause thrombosis especially if associated with the R506Q mutation. Point mutations in methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) gene and in the untranslated region of the prothrombin gene (Factor II G20210A) have been associated respectively with a reduction of the enzymatic activity of MTHFR and with high plasma of prothrombin level. Each of these variants, in association with the Factor V Leiden variant, determines an increased risk related to venous thromboembolism. Among the potential genetic markers of cardiovascular risk, the PAI-1 gene (Plasminogen Activation Inhibitor - type 1) has also been identified, which plays a critical role in the regulation of intravascular fibrinolysis. The 4G (instead of 5G) sequence presence in the promoter region has been associated with an increased risk of venous thromboembolism.

BioRad -CFX96

Extraction: AA1001, AA1319/96

Detection: Real Time

Test: 48



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