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Laboratory Test Directory

Factor II (Prothrombin) Mutation

Components

Name Method Department Units
Factor II (Prothrombin) Mutation Polymerase chain reaction (PCR)
DNA extraction
Molecular Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

3 mL 3 mL
Stability

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Do not centrifuge
  • Do not freeze

Reasons for Rejection

  • Wrong collection tube
  • Clotted specimen
  • Frozen specimen
  • Centrifuged specimen

Comments

Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended (but not required).

This test is a targeted mutation analysis that detects presence of the 20210G>A (also known as G20210A or c.*97G>A) pathogenic mutation in the Factor 2 (F2) gene and can determine whether this mutation is present in heterozygous or homozygous state in a patient. The F2 gene encodes coagulation Factor II, also known as prothrombin, protein. The presence of 20210G>A mutation in the F2 gene increases the patient's risk for prothrombin-related thrombophilia, which is characterized by venous thromboembolism (VTE) that manifest most commonly in adults and is associated with elevated prothrombin levels.

  • Heterozygosity for this mutation is associated with a modest increase in thrombosis risk (2-4 fold increase) and is also associated with increased risk for pregnancy loss, and possibly other pregnancy complications such as preeclampsia, fetal growth retardation, and placental abruption.
  • Homozygosity for this mutation is associated with higher risk for VTE and pregnancy-related complications compared to heterozygotes.

If ordered with other thrombophilia gene analyses (Factor 5 Mutation Analysis and/or SERPINC1 Gene Sequencing), all thrombophilia gene analyses can be performed on the same tube of blood sample. It is NOT necessary to collect additional tube of blood sample for each additional gene analysis.

Forms

Lab Form

CPT Code

  • 81240