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Laboratory Test Directory

Factor II (Factor 2) Mutation Analysis

Components

Name Method Department Units
Factor 5 and Factor 2 Mutation Analysis 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.

This test detects the presence of 20210G>A mutation in the Factor 2 (F2) gene, and whether the mutation is present in heterozygous or homozygous manner in the patient. The F2 gene encodes coagulation Factor II, also known as prothrombin, protein. Prothrombin-related thrombophilia is characterized by venous thromboembolism (VTE) that manifest most commonly in adults and is caused by having a specific mutation called 20210G>A (also known as G20210A or c.*97G>A) mutation in the Factor 2 (F2) gene. Heterozygosity for this mutation has a modest effect on recurrence risk after initial treatment of a first VTE and is also associated with increased risk for pregnancy loss, and possibly other pregnancy complications such as preeclampsia, fetal growth retardation, and placental abruption. Individuals who are homozygous for this mutation have higher risk for VTE and pregnancy-related complications compared to heterozygous individuals.

If ordered with other thrombophilia gene analyses (Factor 5, MTHFR, and/or SERPINC1), 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