Prothrombin G20210A Mutation, Blood
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Venous thromboembolism (VTE) is a syndrome of deep vein thrombosis and its complication, pulmonary embolism. The prothrombin (PT) G20210A mutation (F2 rs1799963) is a common polymorphism within the 3’ untranslated region of the prothrombin gene, affecting 1.5% to 3% of Caucasian Americans, especially persons of southern European ancestry. The PT G20210A allele is uncommon among African Americans (carrier frequency of 0.4%). The PT G20210A mutation is associated with a 3-fold increased risk of venous thromboembolism due to increased plasma prothrombin activity among carriers.
The PT G20210A gene mutation test is a direct mutation analysis of patient blood leukocyte genomic DNA. At present, there are no other methods of detecting this VTE risk factor except for direct mutation testing.
Direct mutation analysis for the prothrombin (PT) G20210A allele should be reserved for patients with clinically suspected thrombophilia. There may be additional indications for direct PT G20210A mutation testing, such as in determining the duration of anticoagulation therapy of venous thromboembolism patients and screening for women contemplating hormone therapy.
The interpretive report will include sample information, assay information, background information, and conclusions drawn from the test results (normal, heterozygous prothrombin [PT] G20210A, homozygous PT G20210A).
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
This direct mutation analysis will not detect individuals with thrombophilia caused by mechanisms other than the prothrombin (PT) G20210A mutation. Special Coagulation Clinic, Thrombophilia Center, and/or Medical Genetics consultations are available for Mayo Clinic patients and may be especially helpful in complex cases or in situations in which the diagnosis is atypical or uncertain. Genetic counseling is recommended before testing asymptomatic family members.
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.
Clinical References Provides recommendations for further in-depth reading of a clinical nature
1. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM: A common genetic variation in the 3’untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996;10:3698-3703
2. Makris M, Preston FE, Beauchamp NJ, et al: Co-inheritance of the 20210 A allele of the prothrombin gene increases the risk of thrombosis in subjects with familial thrombophilia. Thromb Haemost 1997;78:1426-1429
3. De Stefano V, Martinelli I, Mannucci PM, et al: The risk of recurrent venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. N Engl J Med 1999;341:801-806
4. Hall, JG et al: Sensitive detection of DNA polymorphisms by the serial invasive signal amplification reaction. Proc Natl Acad Sci USA 2000;97:8272-8277
5. Heit JA: Thrombophilia: clinical and laboratory assessment and management. In Consultative Hemostasis and Thrombosis. Edited by CS Kitchens, BM Alving, CM Kessler. Second edition. Philadelphia, PA, Saunders, 2007, pp 213–244