In vitro diagnostic kit based on real-time PCR for the simultaneous detection of the -675 PAI-1 4G/5G polymorphism in the SERPINE1 gene and rs5985 (Val34Leu) in the F13A1 gene, associated with the risk of thrombosis.
Detailed description
Operating principle
Genvinset® PAI-1/FXIII multiplex uses real-time PCR technology (Real-Time PCR) with TaqMan® hydrolysis probes for the qualitative detection of the -675 PAI-1 4G/5G polymorphism (rs1799762) in the SERPINE1 gene and rs5985 (Val34Leu) in the F13A1 gene.
The assay uses specific primers and fluorescent probes labelled with HEX, FAM, Cy5 and ROX to discriminate between wild-type and mutant alleles. The fluorescent signal generated during amplification enables the identification of homozygous and heterozygous genotypes through curve analysis and allelic discrimination.
Clinical applications
The kit is designed to assist in the evaluation of patients with suspected inherited thrombophilia or thromboembolic predisposition. The variants analysed are associated with deep vein thrombosis (DVT), venous thromboembolism (VTE), and alterations in fibrinolysis and coagulation.
Key aspects and benefits
Key indicators
Intended users
Technical personnel trained and qualified in molecular biology and genetic analysis in specialised clinical laboratories.
