Prothrombin G20210A Mutation (Factor 2 Mutation)

Methodology: 
Polymerase chain reaction with sequence specific primers (PCR-SSP) combined with agarose gel electrophoresis
Performed: 
Monday - Friday
Reported: 
Within 10 days
Use: 

Prothrombin is the precursor of the serine protease thrombin, a key enzyme in the process of hemostasis and thrombosis. A G to A transition at the nucleotide position 20210 of the prothrombin gene is a common polymorphism in Caucasian populations. Nucleotide 20210 corresponds to a location in the in the 3’-untranslated region of the mRNA. The prothrombin G20210A polymorphism is associated with elevated plasma prothrombin concentrations
(in the range of 115 - 130%) and an increased risk of venous thrombosis. Individuals heterozygous for the mutation have approximately a three-fold increased risk of thrombosis.

Specimen Requirements: 

One 4 mL lavender- (purple) top tube (EDTA).

Unacceptable Conditions:
  • Frozen specimens
Stability (collection to initiation of testing):
  • Ambient: 72 hours
  • Refrigerated: 1 week
Reference Values: 
Negative for the prothrombin G20210A mutation
CPT Code (s): 

81240

Notes: 

UFHPL Test #: 10140

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