32 Tests
Factor V Y1702C
DuplicαRealTime Next Factor V Y1702C Genotyping Kit is an in vitro diagnostic test for the detection of the of the allelic variant g.169530805T>C of the blood coagulation Factor V gene in human genomic DNA, by Real-Time PCR.
Overview
Thrombophilia is a multigenic disease in which the combination of genetic polymorphisms increases the risk of Deep Vein Thrombosis (DVT). The polymorphism A4070G (FV1299 His-Arg), localised in the blood coagulation Factor V gene exon 13 (this allele is a part of the R2 haplotype), has been shown to affect the level of circulating FV and contributes to the resistance phenotype of Activated Protein C (APC). The double heterozygote for Factor V A4070G and G1691A gives an increase of the relative risk of venous thromboembolism of 3-4 times when compared to the FV R506Q alone. FV Y1702C mutation also consists in the substitution of an Adenine with a Guanine at position 5279 and involves the substitution of a Tyrosine with a Cysteine residue at position 1702 of Factor V protein. Genetic, structural and functional findings currently support the association of FV Y1702C mutation with a 3-4 fold increased risk of developing thrombotic events.
Targets:
- Y1702C aminoacidic substitution in the human Factor V gene
- Internal Control (IC)
Diagnostic samples:
- Peripheral whole blood samples collected in EDTA
DNA Extraction:
-
Compatible with the most common DNA Extraction and Purification Systems
Real-Time PCR instruments:
-
Compatible with the most common Real-Time PCR Systems