| Factor 2 G20210A Mutation (8000101255) | |
|---|---|
| Test Mnemonic: | Factov Factor2 |
| Specimen Requirements: | |
| Collection: | Whole Blood |
| Container: | lavender (EDTA), pink (K2EDTA), blue (Na Citrate) or yellow (Acid Citrate Dextrose) top tube |
| Minimum Volume: | 1 ml |
| Storage/Transport: | Ambient |
| Stability: | 5 days |
| Causes for Rejection: | Incorrect tube, inadequate volume |
| Reference Range: | Negative |
| Turnaround Time: | 1-7 days |
| Methodology: | GenMark eSensor |
| Performed: | Molecular Diagnostics Laboratory |
| Synonyms: | F2, coagulation factor II, FII, thrombin, prothrombin, F2 G20210A mutation, factor II 20210 mutation, thrombophilia risk |
| CPT 4 Code: | 81240 |
| Note: |
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: Mutation is detected using genomic DNA, multiplex polymerase chain reaction, and eSensor XT-8 System. Assay uses U.S. Food and Drug Administration (FDA) approved kit (GenMark Diagnostics). Analytic Sensitivity and Specificity: 99 percent. Limitations: Diagnostic errors can occur due to rare sequence variations. F2 gene mutations, other than G20210A will not be detected. Counseling and informed consent are recommended for genetic testing. References: OMIM: 176930 |
| 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. | |