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Factor II Prothrombin G20210A

F2PRO

Test Synonym:

None

CPT Code:

83891-3G – Molecular isolation
83892-3G – Enzymatic digestion
83896-3G – Nucleic acid probe, each (x2)
83903-3G – Mutation scan (x2)
83912-3G – Interpretation and report

Turnaround Time:

2-3 days

Methodology:

Invader™ Assay System

Specimen Requirements:

  • 5.0ml (min. 3.0ml) EDTA blood preferred
  • 5ml (min. 3ml) ACD blood accepted

    • Causes for Rejection:

    <3.0ml of whole blood

    Specimen Stability:

    Specimen stable 24 hours at 18-25°C; 4 days at 2-8°C

    Storage and Handling:

    Ship specimen ambient;  if shipment delayed, store at 2–8°C and ship with ice pack (do not allow the sample to be in direct contact with the ice pack)

    Reference Range:

    2> Mutation not detected

    Indication:

    Mutation within the Factor II (Prothrombin) gene is the second most common inherited predisposing factor for thromboses after APC resistance (i.e., Factor V Leiden mutation). A single point mutation, (G →A) at position 20210, within the Prothrombin gene accounts for up to 18% of familial venous thromboses(1).  Heterozygotes with this condition carry a 2.8-fold increase risk of venous thrombosis, while the risk factor for homozygotes is unknown(2). Homozygotes are extremely rare, with expected prevalence of 0.014%.

    References:

    1. Poort et al. (1996). 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 88:3698
    2. Danneberg et al. (1998). Reliable genotyping of the G-20210-A mutation of the coagulation factor II (Prothrombin). Clinical Chemistry 44:349