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Prothrombin G 20210A Mutation
Principle
The prothrombin gene encodes thrombin, a key serine protease essential for hemostasis and thrombosis. A point mutation at nucleotide 20210 (G→A) has been associated with deep vein thrombosis. Carriers of this mutation have an approximately 2.8-fold increased risk for venous thromboembolism. Detection of this mutation is important for identifying individuals at increased thrombotic risk and for guiding clinical management.
Specimen Requirements
Specimen
Whole blood
Minimum Volume
10 mL total (two 5 mL lavender-top EDTA tubes)
Handling
Deliver to the laboratory within 72 hours at room temperature
Unacceptable Specimens
- Clotted samples
- Specimens not collected in EDTA tubes
- Frozen specimens
Method
Polymerase Chain Reaction (PCR) with reverse hybridization
Normal Range
Reported as:
- Normal
- Heterozygous Mutated
- Homozygous Mutated
Turnaround Time
10 business days
References
- 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 prothrombin levels and an increase in venous thrombosis. 1996;88:3698–3703.
- Rosendaal FR, Doggen CLM, Zivelin A, et al. Geographic distribution of 20210 G to A prothrombin variant. Thromb Haemost. 1998;79:706–708.
- Nguyen A. Prothrombin G20210A polymorphism and thrombophilia. Mayo Clin Proc. 2000;75:595–604.
- Marisa B, Marques MD. Testing for genetic predisposition to venous thrombosis. January 2002.