DNA analysis for Factor V Leiden (FVL) & Prothrombin gene mutation (PT20210A)

Description: Inherited resistance to activated protein C, associated with the factor V Leiden mutation G1691A has been shown to be present in 20-50% of individuals with a history of deep vein thrombosis (DVT). G to A transition at position 20210 in the 3' untranslated region of the prothrombin gene has also been implicated in the pathogenesis of venous thrombosis with an incidence of 5-7% in patients with at least one confirmed episode of DVT. Heterozygosity for the Prothrombin G20210A variant has been shown to increase the risk of venous thrombosis by up to 3 fold. (Prothrombin G20210A genotype G/A) Heterozygosity for factor V Leiden mutation is associated with a 5-10 fold increased risk of thrombosis. (Factor V Leiden genotype G/A) The presence of Homozygous Factor V Leiden (Factor V Leiden genotype A/A) has been shown to increase the risk of venous thrombosis by 50-100 fold. Multiplex PCR with primers designed to detect the Factor V Leiden and the prothrombin polymorphisms/mutations, followed by restriction analysis, enables detection of both causative mutations and hence an estimation of the risk of thrombosis

Sample type and volume required: Volume of blood anticoagulated with EDTA: Adult and children 4 ml, Infants (0-2 years) 1 ml
Clotted samples are unsuitable for DNA analysis.
Blood Samples in in correct anticoagulant tubes may be rejected.
We accept DNA samples. Please provide at least 1-5µg of purified DNA

Storage and transport: Sample to be sent directly to Molecular Diagnostics Laboratory and can be stored at room temperature or 2-8 degrees celsius whilst awaiting delivery.

Contacts: Molecular Pathology Laboratory
Phone: 020 3299 1246 / 2265
Email: synnovis.molpathadmin@synnovis.co.uk
Central Specimen Reception
Blood Sciences Laboratory
Ground Floor Bessemer Wing
King’s College Hospital
Denmark Hill
London SE5 9RS
Mon-Fri 9.00am-5.30pm