Prothrombin (Factor II) G20210A mutation is associated with elevated prothrombin levels. Individuals heterozygous for this mutation have an estimated 3 to 8 fold increased risk for venous thrombosis. The G20210A mutation has an overall prevalence of up to 3% in the Caucasian population, but it is rarely seen in other ethnic groups.
Analysis for the prothrombin G20210A mutation is offered as a specific DNA test, or as part of a thrombophilia panel (See Thrombosis panel) which also includes the factor V Leiden analysis and the MTHFR C677T analysis. 8 - 14% of G20210A heterozygotes have other inherited thrombophilic disorders. Individuals with multiple thrombophilic mutations develop venous thromboembolism at a younger age and are at higher risk for recurrent thrombosis than those with a single defect.
Indications for Testing:
Personal history of 2 or more blood-clotting incidents Deep vein thrombosis Pulmonary embolism Family history of blood clots or Prothrombin mutation Unexplained early-onset severe preeclampsia, placental abruption, or significant intrauterine growth retardation Recurrent unexplained first-trimester losses
Sample Requirements: 5 mL whole blood in purple top (EDTA) tube
Sample Handling: Blood samples stored overnight should be refrigerated or kept cold. Blood samples should never be frozen. Specimens being sent from outside facilities should be packaged with a cold pack according to standard medical safety practices. The specimen should be shipped by overnight priority [scheduled to arrive by Friday AM at the latest].
Shipping Address: Center for Human Genetics Laboratory
10524 Euclid Ave, 6th Floor
Cleveland, OH 44106
216-983-1134
For local samples, please call the Center for Human Genetics Laboratory (216-983-1134) to arrange for sample pick-up.
Turn Around Time: 3-9 days
Cost/CPT codes: $114.80 / 83890, 83892(x2), 83896(x4), 83912