Coagulation Factor V

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  • Citations (1)

General Description

Research indicates that genetic variations are key for understanding the genetic basis of complex traits and diseases. Variants can influence phenotypes, the susceptibility of an individual to disease, drug response and human genome evolution. Many SNPs have been associated with common disorders such as diabetes, obesity, and cardiovascular diseases. Further research into identifying the risk factors and understanding the biology of risk variants would enable a more complete view of these conditions and lead to improved disease treatment and prevention.

Focus

The term "Factor V Leiden" refers to the specific G-to-A substitution at nucleotide 1691 in the gene for Factor V that predicts a single amino acid replacement (Arg506Gln) at one of three activated protein C (APC) cleavage sites in the Factor Va molecule. Research indicates that Factor V Leiden thrombophilia is characterized by a poor anticoagulant response to activated APC and an increased risk of venous thromboembolism.

Target Disease/Application

Coagulation Factor V (proaccelerin, labile factor)

Assay ID Gene Symbol Gene Name Clinical Name SNP ID  
C__11975250_10 FV Coagulation Factor V (proaccelerin, labile factor) Factor V G1691A Leiden mutation rs6025

Specifications

General Specifications

# of assays: 1
Technology: TaqMan® Assays - Pre-formulated assay (20x or 60x mix)
Scale: Available in multiple scales
Intended Use: Research Use Only

Contents and Storage

-20° C

 

Citations & References (1)

  • Predictive value of Factor V Leiden and prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic review.

Authors
Segal JB, Brotman DJ, Necochea AJ, Emadi A, Samal L, Wilson LM, Crim MT, Bass EB.
Journal
JAMA. (2009) 17:2472-85.
Web site
http://www.fvleiden.org/