Factor V Leiden SNP
Description:
Direct detection of F5 c.1601G>A; Arg506Gln (p.Arg534Gln) polymorphism associated with APCr.
Clinical details:
Factor V Leiden (FVL) is the most common identified thrombophiia risk factor in the caucasian population, with a frequency of ~3-7% in the population and 18-45% in the thrombophilic population. It is uncommon in non-caucasian populations.
The amino acid change in Factor V affects an activated protein C (APC) cleavage site making the FVa resistant to inactivation by APC. Heterozygous FVL results in an approximately 5 to 7-fold increased risk of thrombosis and homozygosity ~80-fold. The thrombotic risk can be much greater if heterozygous FVL is found in combination with other risk factors e.g. FVL + OCP ~30-fold increased risk.
The amino acid change in Factor V affects an activated protein C (APC) cleavage site making the FVa resistant to inactivation by APC. Heterozygous FVL results in an approximately 5 to 7-fold increased risk of thrombosis and homozygosity ~80-fold. The thrombotic risk can be much greater if heterozygous FVL is found in combination with other risk factors e.g. FVL + OCP ~30-fold increased risk.
Reference range:
n/a
Synonyms or keywords:
Factor V Leiden
FVL
Activated protein C resistance (APCr).
Thrombophilia risk factor
Units:
n/a
Department:
Location:
Sample type and Volume required:
1 x Edta
Call in advance:
no
Turnaround time:
7 days
Storage and transport:
transport at ambient temperature
Contacts:
Molecular Haemostasis Laboratory at St Thomas'
020 7188 2798
Haemostasis and Thrombosis
North Wing - 4th floor
St Thomas' Hospital
Westminster Bridge Road
London SE1 7EH
Laboratory opening times
Monday - Friday 09.00 - 17.00
North Wing - 4th floor
St Thomas' Hospital
Westminster Bridge Road
London SE1 7EH
Laboratory opening times
Monday - Friday 09.00 - 17.00
Laboratory:
Last updated: 14/03/2017
