INFINITI System Assay for Factor II-V Leiden (IVD)
Sample Type and Volume:
- The Factor V Leiden mutation is the most common variant associated with inherited thrombosis.1
- The Factor V Leiden mutation is supported by a high prevalence in the general population (4-6% of US population), and accounts for 85-95% of activated protein C resistant cases. 1
- Presence of the Factor V Leiden variant enhances the risk of venous thrombosis, with odds ratios (ORs) of 3 to 8 in heterozygotes and 30 to 140 in homozygotes.2
- The Factor II (prothrombin) variant gene is the second most common genetic defect for inherited thrombosis.
- "The increased risk of venous thrombosis in patients who are heterzygous for the prothrombin (G20210A) gene polymorphism is 3-fold."3
- "Homozygotes for this polymorphism have been described but are very uncommon."3
- Patients with a previous, or current, thrombotic event that have the prothrombin (G20210A) gene polymorphism are potentially at increased risk for recurrence.2
- “Patients with the prothrombin (G20210A) mutation are at increased risk of thrombosis when exposed to other risk factors such as:
- (1) Smoking
- (2) Pregnancy
- (3) Obesity
- (4)Oral Contraceptives
- (5) Immobility1
- "The risk of thrombosis is substantially increased for patients with multiple genetic risk factors (i.e. , the "double hit hypothesis") including the prothrombin (G20210A) gene mutation, Factor V Leiden Leiden mutation, hyperhomocysteinemia, methylenetetrahydrofolate reductase (MTHFR) thermolabile polymorphism, protein C deficiency, protein S deficiency, and antiphospholipid antibody Syndrome(s)."1
- Definition and confirmation of the prothrombin (G20210A) gene polymorphism is necessary for genetic counseling of patients and family members.1
- Grody W, Griffin J, Taylor A, Korf B, Heit, J. (2001) American College of Medical Genetics Consensus Statement on Factor V Leiden Leiden Mutation Testing, Genetics in Medicine, 3:2, 139-147.
- Salomon, O., et.al., Single and Combined Prothrombotic Factors in Patients With Idiopathic Venous Thromboembolism, Arterioscler Thromb Vasc Biol. 1999;19:511-518.