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Prothrombin Mutation G20210A
MessageIndividuals suitable for testing:
- Symptomatic patients.
- Patients with family history of thrombosis or thrombophilia-associated mutations.
- High-risk patients with personal or family history of thrombosis, recurrent spontaneous abortions, and severe early onset preeclampsia.
Negative results indicate the absence of the prothrombin 20210G>A but do not rule out the presence of other rare mutations within the prothrombin gene.
Heterozygous positive results are associated with a 2- to 5-fold increased risk for venous thrombosis, obstetric complications, and possibly premature coronary heart disease.
Test Code
CPT Codes
81240
Preferred Specimen
EDTA WHOLE BLOOD
Minimum Volume
Other Acceptable Specimens
Transport Container
LAV/1
Transport Temperature
Specimen Stability
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Methodology
Real-Time Polymerase Chain Reaction (RT-PCR)
Setup Schedule
TUESDAY MORNING
Report Available
Reference Range
NEGATIVE
Clinical Significance
The Factor II Prothrombin Mutation is a single point mutation of G to A substitution in the 3' untranslated region of the prothrombin gene. It is considered a common cause for inherited thrombophilia and is found in approximately 1-2% of the general population. Inherited thrombophilia, in association with elevated plasma prothrombin levels, predisposes an individual to thrombotic events such as venous thrombosis, arterial thrombosis, and risk of recurrent miscarriage. Additionally, in patients heterozygous for Factor V Leiden mutation, risk of thrombosis increases synergistically.