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Factor V Leiden Mutation
and PT 20210 Mutation

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Also known as: Activated Protein C Resistance; APC Resistance; Factor V R506Q; PT G20210A; Factor II 20210; Factor II Mutation
Formal name: Factor V Leiden Mutation; Prothrombin 20210 Mutation
Related tests: Antithrombin; Protein C and Protein S; Homocysteine; MTHFR Mutation; Factor V R2 A4070G Mutation

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NOTE: This article is based on research that utilizes the sources cited here as well as the collective experience of the Lab Tests Online Editorial Review Board. This article is periodically reviewed by the Editorial Board and may be updated as a result of the review. Any new sources cited will be added to the list and distinguished from the original sources used.

Sources Used in Current Review

Mayo Clinic Staff. (2012 September 6). Factor V Leiden. Mayo Clinic. Available online at http://www.mayoclinic.org/diseases-conditions/factor-v-leiden/basics/definition/con-20032637 through http://www.mayoclinic.org. April 2014.

Reviewed by Hart, K. et al. (Reviewed 2010 August). Factor V Leiden Thrombophilia. Genetics Home Reference. Available online at http://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia through http://ghr.nlm.nih.gov. Accessed April 2014.

Shah, S. et al. (Updated August 31, 2012). Genetics of Venous Thromboembolism. Medscape. Available online at http://emedicine.medscape.com/article/1797779-overview through http://emedicine.medscape.com. Accessed April 2014.

Hart, K. et. al. (Updated 2014 February). Hypercoagulable States – Thrombophilia. ARUP Consult. Available online at http://www.arupconsult.com/Topics/Thrombophilia.html?client_ID=LTD through http://www.arupconsult.com. Accessed April 2014.

Schwartz, R. et al. (Updated 2013 September 27). Factor II. Medscape. Available online at http://emedicine.medscape.com/article/209742-overview through http://emedicine.medscape.com. Accessed April 2014.

Pagana, K. D. & Pagana, T. J. (© 2012). Mosby's Diagnostic and Laboratory Test Reference 11th Edition: Mosby, Inc., Saint Louis, MO. Pp 421-422.

Berg, A. et al. Recommendations from the EGAPP Working Group: Routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members. Genetics in Medicine (2011) 13, 67–76; doi:10.1097/GIM.0b013e3181fbe46f. Available online at http://www.nature.com/gim/journal/v13/n1/full/gim9201111a.html through http://www.nature.com/. Accessed April 2014.

Patel, K. et al. (Updated 2014 April 15). Deep Venous Thrombosis. Medscape. Available online at http://emedicine.medscape.com/article/758140-overview through http://emedicine.medscape.com. Accessed April 2014.

Ghosh, Amit. (© 2010). Mayo Clinic Internal Medicine Review. 9th edition: Oxford University Press, Pg. 394.

Sources Used in Previous Reviews

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Pagana, Kathleen D. & Pagana, Timothy J. (2001). Mosby's Diagnostic and Laboratory Test Reference 5th Edition: Mosby, Inc., Saint Louis, MO.

Coagulation Test Panels. Florida Hospital Cancer Institute, Clinical and Research Laboratories [Online information]. Available online at http://www.fhci-labs.com/researchlabs/clinicallabs/hemostasisandthrombosis/panels.htm through http://www.fhci-labs.com.

Confusing Coagulation Test Names. UAB Coagulation Service, Univ of Alabama at Birmingham [Online information]. Available online at http://peir.path.uab.edu/coag/article_187.shtml through http://peir.path.uab.edu.

Check, W. (1999 September). Labs Home In On Mutant Alleles. CAP Today, In the News [On-line Journal]. Available online at http://www.cap.org/captoday/archive/1999/cov999.html through http://www.cap.org.

Chapter 132 Thrombotic Disorders, General. The Merck Manual of Diagnosis and Therapy, Section 11. Hematology And Oncology [Online information]. Available online at http://www.merck.com/pubs/mmanual/section11/chapter132/132a.htm through http://www.merck.com.

Laposata, M. & Vancott, E. (2000 January). How to work up hypercoagulability. CAP Today, In the News [On-line Coagulation Case Study]. Available online at http://www.cap.org/CAPToday/casestudy/coag5.html through http://www.cap.org.

Factor V Leiden. University of Illinois - Urbana/Champaign, Carle Cancer Center, Hematology Resource Page, Patient Resources [On-line information]. Available online at http://www-admin.med.uiuc.edu/hematology/PtFacV2.htm through http://www-admin.med.uiuc.edu.

Ronald C. McGlennen, R. and Key, N. Clinical and Laboratory Management of the Prothrombin G20210A Mutation. College of American Pathologists, Practicing Pathology. Available online through http://www.cap.org.

Prothrombin Gene Mutation 20210A [11 paragraphs]. University of Illinois - Urbana/Champaign, Carle Cancer Center, Hematology Resource Page, Patient Resources [On-line information]. Available online at http://www-admin.med.uiuc.edu/hematology/PtProthrombin.htm through http://www-admin.med.uiuc.edu.

Press, R. et. al. (2002). Clinical Utility of Factor V Leiden (R506Q) Testing for the Diagnosis and Management of Thromboembolic Disorders. Arch Pathol Lab Med 126: 1304-1318 [Online pdf of journal article]. PDF available for download at http://www.access-genetics.com/Arch_Pathol_Lab_Med_Vol%20126_Nov_2002_3.pdf through http://www.access-genetics.com.

(2001 January 10, Modified). Coagulation Test Descriptions, Factor V Leiden (Activated Protein C Resistance Pcr Assay) and Prothrombin (G20210A) Gene Polymorphism (PTG G20210A). Clinical Coagulation Laboratory, A division of Duke University Regional Referral Laboratory Services [Online information]. Available online at http://pathology.mc.duke.edu/coag/TestDes.htm through http://pathology.mc.duke.edu.

Menta, S. (1999 Spring). The Coagulation Cascade. Physiology Disorders Evaluation, College of Medicine, Univ of Florida [On-line information]. Available online at http://www.medinfo.ufl.edu/year2/coag/title.html through http://www.medinfo.ufl.edu.

Bauer, K. (2001). The Thrombophilias: Well-Defined Risk Factors with Uncertain Therapeutic Implications. Ann Intern Med. 2001;135:367-373 [Journal]. Available online through http://www.annals.org.

DeLoughery, T. (1999 March 15). Tests of Hemostasis and Thrombosis. OHSU [Online student handout]. Available online at http://www.ohsu.edu/som-hemonc/handouts/deloughery/printtest.html through http://www.ohsu.edu.

Pagana, Kathleen D. & Pagana, Timothy J. (© 2007). Mosby's Diagnostic and Laboratory Test Reference 8th Edition: Mosby, Inc., Saint Louis, MO. Pp 430-431.

Clarke, W. and Dufour, D. R., Editors (2006). Contemporary Practice in Clinical Chemistry. AACC Press, Washington, DC. Harris, N. et. al. Chapter 19: Assessment of Hemostasis in the Clinical Laboratory, Pp 227-239.

Kujovich, J. (2007 February 12, Update). Factor V Leiden Thrombophilia. GENEReviews [On-line information]. Available online at http://www.genetests.org/query?dz=factor-v-leiden through http://www.genetests.org. Accessed on 3/14/07 .

Kujovich, J. (2006 July 25). Prothrombin Thrombophilia. GENEReviews [On-line information]. Available online through http://www.genetests.org. Accessed on 3/16/07.

Ornstein, D. and Cushman, M. (2003). Factor V Leiden. Circulation 2003:107;94-97 [On-line information]. PDF available for download at http://circ.ahajournals.org/cgi/reprint/107/15/e94.pdf through http://circ.ahajournals.org. Accessed on 3/14/07.

University of Illinois Urbana/Champaign, Carle Cancer Center. Patient information on Factor V Leiden. Available online at http://www-admin.med.uiuc.edu/hematology/PtFacV2.htm through http://www-admin.med.uiuc.edu. Accessed on June 2007.

McPherson R, Pincus M, eds, (2007) Henry's Clinical Diagnosis and Management by Laboratory Methods, 21st edition, Saunders Elsevier.

(Reviewed 2010 August). Factor V Leiden Thrombophilia. Genetics Home Reference [On-line information]. Available online at http://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia through http://ghr.nlm.nih.gov. Accessed September 2010.

Shah, S. and Voora, D. (Updated 2010 February 7). Genetics of Venous Thromboembolism. eMedicine [On-line information]. Available online at http://emedicine.medscape.com/article/1797779-overview through http://emedicine.medscape.com. Accessed September 2010.

Hart, K. et. al. (Updated 2010 August). Hypercoagulable States – Thrombophilia. ARUP Consult [On-line information]. Available online at http://www.arupconsult.com/Topics/Thrombophilia.html?client_ID=LTD through http://www.arupconsult.com. Accessed September 2010.

(2009 July). The Thrombophilias and Pregnancy. March of Dimes [On-line information]. Available online at http://www.marchofdimes.com/professionals/14332_9264.asp through http://www.marchofdimes.com. Accessed September 2010.

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Centers for Disease Control and Prevention. Public Health Genomics, HUGENet Case study. Available online at http://www.cdc.gov/genomics/hugenet/CaseStudy/FVL/FVLview.htm through http://www.cdc.gov. Accessed January 2011.

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