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

Simultaneous detection of the PAI-1 4G/5G and FXIII Val34Leu polymorphisms in a single multiplex reaction.
Compatible with multiple real-time PCR platforms.
Compatible with automated pipetting systems.
High sensitivity and specificity.

Key indicators

100% Diagnostic concordance compared with alternative methods.
100% Repeatability.
100% Reproducibility.

Intended users

Technical personnel trained and qualified in molecular biology and genetic analysis in specialised clinical laboratories.

Considerations or limitations

The assay exclusively detects the -675 PAI-1 4G/5G and rs5985 polymorphisms. Variants in primer- or probe-binding regions may affect the interpretation of results. The results must be used together with other clinical and laboratory data.
Presentation details
Available references
GVS-PAI/F13-24 24 tests.
GVS-PAI/F13-48 48 tests.
GVS-PAI/F13-96 96 tests (on request).
Kit contents: each kit contains Master Mix, the primer mixture (Primer Mix), controls (WT and MUT), and a reaction blank (Reaction Blank).
Storage conditions: Store between -30°C and -18°C.

Area:

Hematology
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