Prothrombin (Factor II) 20210G>A Mutation Analysis

Test Code

17909

CPT Codes
81240

Physician Attestation of Informed Consent

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.

Preferred Specimen

5 mL whole blood collected in an EDTA (lavender-top) tube

Minimum Volume

3 mL

Other Acceptable Specimens

Whole blood collected in: EDTA (royal blue-top), sodium heparin (green-top), lithium heparin (green-top), or ACD (yellow-top) tube

Instructions

Extracted DNA: Please call 1-(866)-GENE-INFO or 1-(866)-436-3463 for additional information.
Frozen shipping is acceptable

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 8 days
Refrigerated: 8 days
Frozen: 30 days

Methodology
Polymerase Chain Reaction and Detection

FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Set up: Daily; Report available: 4-5 days

Limitations

If this mutation is not found by the testing procedure, it does not mean that the risk of carrying or developing deep vein thrombosis is not present. It simply means that this specific mutation has not been found, although other mutations may be present. It is also possible that such a patient may have secondary deep vein thrombosis due to non-genetic causes that would not be detected by this test. A person with one copy of the mutation has an approximate 3-fold increase in risk for venous thrombosis. The increase in risk for a person with two copies of the mutation is not known.

Reference Range

See Laboratory Report

Clinical Significance

Factor II Mutation (G20210A) is one of the most common causes of venous thrombosis. 2.3% of the general population is heterozygous in contrast with 6.2% of patients with venous thrombosis and 18% with familial venous thrombosis. Other risk factors compound the risk for venous thrombosis.

Performing Laboratory

Quest Diagnostics Nichols Institute-San Juan Capistrano, CA

33608 Ortega Highway

San Juan Capistrano, CA 92675-2042

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.