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UR Medicine Labs

Background Information for Prothrombin (F2) G20210A Mutation: Characteristics: The Factor II, G20210A mutation 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 (e.g., 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. Incidence: Approximately 2-5% of Caucasians and 0.3% of African Americans are heterozygous; homozygosity occurs in 1 in 10,000 individuals. Inheritance: Incomplete autosomal dominant. Penetrance: The risk of thrombosis is increased 2-4 fold for heterozygotes and further increased for homozygotes. Cause: Homozygosity or heterozygosity for F2 c.20210G>A (G20210A). Mutation Tested: F2 c.20210G>A (G20210A).Methodology: Polymerase chain reaction and fluorescence monitoring. Analytical Sensitivity and Specificity: 99%. Limitations: Rare diagnostic errors can occur due to primer site mutations. F2 gene mutations, other than G20210A, will not be detected.
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