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Factor 2 G20210A Mutation ([LAB001988])
Test Mnemonic:

Factor2

Specimen Requirements:
Collection:

Whole Blood

Container:

EDTA (lavender), K2EDTA (pink), Sodium Citrate (blue), or Acid Citrate Dextrose (yellow) anticoagulant tube

Minimum Volume:

3 mL of whole blood

Storage/Transport:

Refrigerate at 2-8C up to 15 days.

Specimen Preparation:

Do NOT centrifuge.

Stability:

Refrigerate at 2-8C up to 15 days.

Causes for Rejection:

Specimens that have been centrifuged. Insufficient quantity, gross hemolysis, lipemia. Specimen container unlabeled or labeled incorrectly. No date and time of collection or collector information on order.

Reference Range:

Normal

Turnaround Time:

3 days

Methodology:

Reverse transcriptase polymerase chain reaction

Performed:

Clinical Microbiology

Synonyms:

F2, coagulation factor II, FII, thrombin, prothrombin, F2 G20210A mutation, Factor II 20210 mutation

CPT 4 Code:

81240

Note:

Factor 2 Comment:

Phenotype Characteristics: Thrombophilia due to production of too much coagulation factor 2 (F2, also called prothrombin)

Incidence: Approximately 2-5 percent of Caucasians and 0.3 percent of African Americans are heterozygous; about 1 in 10,000 individuals are homozygous with two copies of the mutation. 

Penetrance: The risk of thrombosis is increased 2-4 fold for heterozygotes and further increased for homozygotes.

Mutation tested: F2 c.20210G>A (G20210A).

Clinical Sensitivity for Venous Thrombosis: Approximately 10%.

Methodology: Polymerase Chain Reaction and fluorescence monitoring

Limitations: The performance of this assay has not been evaluated with samples from pediatric patients. 

Counseling and informed consent are recommended for genetic testing.

References: OMIM:176930

http://ghr.nlm.nih.gov/condition/prothrombin-thrombophilia

 

When ordering tests for which Medicare or Medicaid reimbursement will be sought, physicians should only order tests that are medically necessary for the diagnosis or treatment of the patient. Components of the organ or disease panels may be ordered individually. The diagnostic information must substantiate all tests ordered and must be in the form of an ICD-10 code or its verbal equivalent.
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