PROTHROMBIN (FACTOR II)

DNA ANALYSIS

Genetic risk factors are involved in the predisposition of individuals to venous thrombosis. These include elevated plasma prothrombin levels, which is associated with the 20210 G-A mutation in the prothrombin (Factor II) gene. Heterozygote carriers of this mutation have an estimated 3 to 8 fold increased risk for venous thrombosis, with a further increased risk for homozygotes. The prothrombin 20210 G-A mutation has an overall prevalence of approximately 2% in the Caucasian population, but is rarely seen in other ethnic groups.

Analysis for the prothrombin 20210 G-A mutation is offered as a specific DNA test, or as part of a thrombophilia panel (See Thrombophilia panel) which also includes the Factor V Leiden R506Q mutation and the MTHFR 677 C-T variant.

Reasons For Referral:

Evaluation of patients with venous thrombosis
Evaluation of venous thrombosis in pregnant women or women taking oral contraceptives
Evaluation of asymptomatic individuals with a family history of venous thrombosis
Evaluation of individuals with relatives known to have a Prothrombin or other thrombophilia risk factor mutation

Testing Methodology:

Direct Mutation Analysis: Our laboratory uses an automated high-throughput system that incorporates DNA amplification (PCR), primer extension, and allele resolution by Matrix Assisted Laser Desorption Ionization-Time of Flight (MALDI-TOF) Mass Spectrometry to test for the 20210 G-A mutation in the Prothrombin (Factor II) gene.

Specimen Requirements:

Blood: EDTA (purple top) tubes: Adult: 14cc.
Requistion form must accompany specimen. Prior to any genetic testing, we recommend genetic counseling and request that the subject sign our consent form and submit it with the sample. To receive our forms, additional information, or collection kits, please contact our laboratory.

Turnaround Time:

1-2 weeks

CPT Codes and Prices:

83914, 83912, 83898, 83891

Shipping Information

Forms:

>> DNA Requisition

Test Codes:

6048