RIDA®GENE Factor V

Intended use:

For in vitro diagnostic use. The RIDA®GENE Factor V kit uses real-time PCR to qualitatively detect a point mutation of G to A at position 1691 in the human factor V gene (Factor V Leiden mutation) in genomic DNA that was isolated from human EDTA whole blood samples.
The RIDA®GENE Factor V kit is intended to support the diagnosis in the assessment of patients with suspected thrombophilia.

General information:

Thromboses are a major medical problem that increases with age. Roughly 1 in 100,000 people under 40 years develop venous thrombosis. This probability increases in people over 75 years to 1 in 100 people per year. Factor V Leiden is considered the most common genetic factor that is described in combination with the development of venous thromboembolism. In this case, it is a point mutation in the factor V gene at position 1691 that leads to a base exchange from G to A. As a result, the binding site for activated protein C with anticoagulant effect is no longer available (APC resistance), and factor V is broken down less compared with the wild type, which results in a hypercoagulable state. Factor V Leiden is widely distributed with high prevalence in Europa and with practically no cases in Asia or Africa. The probability of developing venous thrombosis is 3 to 8 times higher with a genetic mutation in the factor V gene if this mutation is heterozygous. For a homozygous mutation at position 1691, the probability increases 10 to 80 times. In addition, the chance of developing venous thrombosis at a young age also increases in this case. If other factors, such as a mutation in the factor II gene (G20210A), are present with this mutation, the risk of recurrent thromboses increases as well.