The Factor II, c.*97G>A (G20210A) pathogenic variant is a common genetic risk factor for venous thrombosis associated with elevated prothrombin levels leading to increased rates of thrombin generation and excessive growth of fibrin clots. The expression of Factor II thrombophilia is impacted by coexisting genetic thrombophilic disorders, acquired thrombophilic disorders (eg, malignancy, hyperhomocysteinemia, high factor VIII levels), and circumstances including: pregnancy, oral contraceptive use, hormone replacement therapy, selective estrogen receptor modulators, travel, central venous catheters, surgery, and organ transplantation.
Factor II genotyping usedful to the risk
assessment for venous thromboembolis thromboembolism (VTE) to better inform
decisions regarding treatment and clinical management decisions of patients
with relevant personal history of VTE and potential preventative care for
patients with significant family history of VTE.Approximately 2 percent of Caucasians and 0.3 percent of African
Americans are heterozygous; homozygosity occurs in 1 in 10,000 individuals.
Three milliliter EDTA blood sample can be collected and sent to laboratory for testing purpose. Genomic DNA from patient sample isolated and used for Polymerase chain reaction including gene responsible for G20210A variant detection. Single nucleotide polymorphism (c.*97G>A) analyzed by sequence data received by DNA sequencing technology.
The c.*97G>A variant in the F2 gene is a genetic risk factor for venous thromboembolism. Heterozygous carriers have a 2- to 4-fold increased risk for venous thromboembolism. Homozygotes for the c.*97G>A variant are rare. The annual risk of VTE in homozygotes has been reported to be 1.1% per year. Individuals who carry both a *97G>A variant in the F2 gene and a c. 1601G>A (p.Arg534Gln) variant in the F5 gene (commonly referred to as Factor V Leiden) have an approximately 20-fold increased risk for venous thromboembolism. Management of thrombotic risk and thrombotic events should follow established guidelines and fit the clinical circumstance. This result cannot predict the occurrence or recurrence of a thrombotic event. This test is developed and its performance characteristics determined by geneOmbio Technologies Pvt Ltd.