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.
- Related condition
- Reference range
n/a
- Units
- n/a
- Synonyms
- Factor V Leiden FVL Activated protein C resistance (APCr). Thrombophilia risk factor
- Testing site
- Synnovis : Genomics : St Thomas' Hospital
- Laboratory
- Molecular Haemostasis
- Sample type and volume required
- 1 x Edta
- Call in advance
- no
- Storage and transport
- transport at ambient temperature
- Turnaround time
- 7 days
- Contacts
Molecular Haemostasis Laboratory at St Thomas’ Hospital
Phone: 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