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Test ID: FPF2V    
Prothrombin (F2) c. *97G>A (G20210A) Pathogenic Variant

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Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

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.

 

INCIDENCE: Approximately 2 percent of Caucasians and 0.3 percent 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.*97G>A (G20210A).

PATHOGENIC VARIANT TESTED: F2 c.*97G>A (G20210A).

CLINICAL SENSITIVITY FOR VENOUS THROMBOSIS: Approximately 10 percent.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Negative