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Factor II (Prothrombin), DNA Analysis

CPT: 81240
Updated on 07/26/2021
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Synonyms

  • Prothrombin DNA
  • Prothrombin Gene Analysis
  • Prothrombin Gene Mutation

Expected Turnaround Time

5 - 7 days



Related Documents

For more information, please view the literature below.

Procedures for Hemostasis and Thrombosis: A Clinical Test Compendium


Specimen Requirements


Specimen

Whole blood or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)


Volume

7 mL whole blood or LabCorp buccal swab kit


Minimum Volume

3 mL whole blood or two buccal swabs


Container

Lavender-top (EDTA) tube, yellow-top (ACD) tube, or LabCorp buccal swab kit


Storage Instructions

Maintain specimen at room temperature.


Causes for Rejection

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab


Test Details


Use

Contributes to the risk assessment for venous thromboembolis thromboembolism (VTE) to better inform decisions regarding treatment and clinical management decisions of patients with relevant personal history of VTE and potential preventative care for patients with significant family history of VTE.

Detection of mutation in the factor II (prothrombin) gene (OMIM 176930) associated with increased risk of thrombosis

Contributes to the risk assessment for venous thromboembolis thromboembolism (VTE) to better inform decisions regarding treatment and clinical management decisions of patients with relevant personal history of VTE and potential preventative care for patients with significant family history of VTE.


Limitations

Variant analyzed: c.*97G>A, previously referred to as G20210A. Results must be combined with clinical information for the most accurate interpretation. Molecular-based testing is highly accurate, but as in any laboratory test, diagnostic errors may occur. False positive or false negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

This test detects the factor II G20210A mutation and will help identify those individuals who carry this mutation and who are at increased risk of thrombosis; however, increased risk of thrombosis can be caused by a variety of genetic and nongenetic factors not screened for by this assay.

This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).

Variant analyzed: c.*97G>A, previously referred to as G20210A. Results must be combined with clinical information for the most accurate interpretation. Molecular-based testing is highly accurate, but as in any laboratory test, diagnostic errors may occur. False positive or false negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.


Methodology

Polymerase chain reaction (PCR); restriction enzyme digestion


Additional Information

Venous thromboembolism is a multifactorial disease influenced by genetic, environmental, and circumstantial risk factors. The c.*97G>A variant in the F2 gene is a genetic risk factor for venous thromboembolism. Heterozygous carriers have a 2- to 4-fold increased risk for venous thromboembolism. Homozygotes for the c.*97G>A variant are rare. The annual risk of VTE in homozygotes has been reported to be 1.1% per year. Individuals who carry both a *97G>A variant in the F2 gene and a c. 1601G>A (p.Arg534Gln) variant in the F5 gene (commonly referred to as Factor V Leiden) have an approximately 20-fold increased risk for venous thromboembolism. Risks are likely to be even higher in more complex genotype combinations involving a *97G>A variant in the F2 gene and a c. 1601G>A (p. Arg534Gln) variant in the F5 gene (commonly referred to as Factor V Leiden). Additional risk factors include: Genetic defects in protein C, protein S, or Factor XIII, age, male sex, personal or family history of deep vein thromboembolism, smoking, surgery, prolonged immobilization, malignant neoplasm, tamoxifen treatment, raloxifene treatment, oral contraceptive use, hormone replacement therapy, and pregnancy. Management of thrombotic risk and thrombotic events should follow established guidelines and fit the clinical circumstance. This result cannot predict the occurrence or recurrence of a thrombotic event. Genetic coordinators are available for health care providers to discuss results and for information on how to order additional testing, if desired, at 1-800-345-GENE.


References

Bhatt S, Taylor AK, Lozano R, Grody WW, Griffin JH, ACMG Professional Practice and Guidelines Committee. Addendum: American College of Medical Genetics consensus statement on factor V Leiden mutation testing. Genet Med. 2021 Mar 5. Online ahead of print.33674767
Kujovich JL. Prothrombin Thrombophilia. 2006 Jul 25 [Updated 2021 Feb 4]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Accessed at https://www.ncbi.nlm.nih.gov/books/NBK1148/.
Zhang S, Taylor AK, Huang X, et al. Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 Dec;20(12):1489-1498. Epub 2018 Oct 5.30297698
Blom JW, Doggen CJ, Osanto S, Rosendaal FR. Malignancies, prothrombotic mutations, and the risk of venous thrombosis. JAMA. 2005 Feb 9; 293(6):715-722. 15701913
College of American Pathologists Consensus Conference XXXVI: Diagnostic Issues in Thrombophilia. Arch Pathol Lab Med. 2002; 126(11):1277-1433. 12421135
Danneberg J, Abbes AP, Bruggeman BJ, Engel H, Gerrits J, Martens A. Reliable genotyping of the G-20210-A mutation of coagulation factor II (prothrombin). Clin Chem. 1998 Feb; 44(2):349-351. 9474038
De Stefano V, Martinelli I, Mannucci PM, et at. The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. N Engl J Med. 1999 Sep 9; 341(11):801-806. 10477778
Grody WW, Griffin JH, Taylor AK, et al. American College of Medical Genetics consensus statement on factor V Leiden mutation testing. Genet Med. 2001 Mar-Apr; 3(2):139-148. 11280951
Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996; 88(10):3698-3703.8916933
Bhatt S, Taylor AK, Lozano R, Grody WW, Griffin JH, ACMG Professional Practice and Guidelines Committee. Addendum: American College of Medical Genetics consensus statement on factor V Leiden mutation testing. Genet Med. 2021 Mar 5. Online ahead of print.33674767
Kujovich JL. Prothrombin Thrombophilia. 2006 Jul 25 [Updated 2021 Feb 4]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Accessed at https://www.ncbi.nlm.nih.gov/books/NBK1148/.
Zhang S, Taylor AK, Huang X, et al. Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 Dec;20(12):1489-1498. Epub 2018 Oct 5.30297698

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
511162 Factor II, DNA Analysis 24476-4 511194 Factor II, DNA Analysis 24476-4

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