Proceeds from website advertising help sustain Lab Tests Online. AACC is a not-for-profit organization and does not endorse non-AACC products and services.

MTHFR Mutation

Print this article
Share this page:
Also known as: MTHFR DNA Testing
Formal name: Methylenetetrahydrofolate Reductase Mutations, C677T and A1298C

Article Sources

« Return to Related Pages

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

(Reviewed 2011 July). MTHFR. Genetics Home Reference. Available online at http://ghr.nlm.nih.gov/gene/MTHFR through http://ghr.nlm.nih.gov. Accessed February 2014.

(© 1995-2014). 5,10-Methylenetetrahydrofolate Reductase C677T, Mutation, Blood. Mayo Medical Laboratories. Available online at http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/81648 through http://www.mayomedicallaboratories.com. Accessed February 2014.

(© 2014). Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations 0055655. ARUP Laboratories Laboratory Test Directory. Available online at http://ltd.aruplab.com/Tests/Pub/0055655 through http://ltd.aruplab.com. Accessed February 2014.

Wang W. et al. (2013 March 11). MTHFR C677T Polymorphism and Risk of Congenital Heart Defects: Evidence from 29 Case-Control and TDT Studies. PLOS One. DOI: 10.1371/journal.pone.0058041. Available online at http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0058041 through http://www.plosone.org. Accessed February 2014.

Hickey, S. et al. (3 January 2013). ACMG Practice Guideline: lack of evidence forMTHFR polymorphism testing. Genetics in Medicine. doi:10.1038/gim.2012. Available online at http://www.nature.com/gim/journal/v15/n2/full/gim2012165a.html through http://www.nature.com. Accessed February 2014.

Cohen D.A., et al. (29 November 2013). Laboratory informatics based evaluation of methylene tetrahydrofolate reductase C677T genetic test overutilization. Journal of Pathology Informatics. doi: 10.4103/2153-3539.122389. Available online at http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869957/ through http://www.ncbi.nlm.nih.gov. Accessed February 2014.

Mandava, P. et al. (Updated 2013 June 20). Homocystinuria/Homocysteinemia. Medscape. Available online at http://emedicine.medscape.com/article/1952251-overview#a30 through through http://emedicine.medscap.com. Accessed February 2014.

Sources Used in Previous Reviews

Mandava, P, et. al. (Updated 2009 May 25). Metabolic Disease and Stroke - Homocystinuria/Homocysteinemia. eMedicine [On-line information]. Available online at http://emedicine.medscape.com/article/1162007-overview through http://emedicine.medscape.com. Accessed October 2010.

(Reviewed 2008 January). MTHFR. Genetics Home Reference [On-line information]. Available online at http://ghr.nlm.nih.gov/gene/MTHFR through http://ghr.nlm.nih.gov. Accessed October 2010.

Fong, C. (Revised 2010 February). Amino Acid and Organic Acid Metabolism Disorders. Merck Manual for Healthcare Professionals [On-line information]. Available online at http://www.merck.com/mmpe/sec19/ch296/ch296c.html?qt=MTHFR&alt=sh through http://www.merck.com. Accessed October 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 October 2010.

(© 1995-2010). MayoClinic Mayo Medical Laboratories. Unit Code 91457: Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations [On-line information]. Available online at http://www.mayomedicallaboratories.com/test-catalog/Overview/91457 through http://www.mayomedicallaboratories.com. Accessed October 2010.

(© 2006-2010). Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations: 0055655. ARUP's Laboratory Test Directory [On-line information]. Available online at http://www.aruplab.com/guides/ug/tests/0055655.jsp through http://www.aruplab.com. Accessed October 2010.

Varga, E. et. al. (2005 May 17). Homocysteine and MTHFR Mutations, Relation to Thrombosis and Coronary Artery Disease. Circulation. 2005;111:e289-e293 [On-line information]. Available online at http://circ.ahajournals.org/cgi/content/full/111/19/e289 through http://circ.ahajournals.org. Accessed October 2010.

Curtin, K. et. al. (2004 February). MTHFR C677T and A1298C Polymorphisms. Cancer Epidemiology, Biomarkers & Prevention. February 1, 2004 13; 285 [On-line information]. Available online at http://cebp.aacrjournals.org/content/13/2/285.full through http://cebp.aacrjournals.org. Accessed October 2010.

(2005 June 17). MTHFR Gene Variants and Birth Defects. CDC Birth Defects [On-line information] Available online at http://www.cdc.gov/ncbddd/bd/mthfr.htm through http://www.cdc.gov. Accessed October 2010.

(© 2010). MTHFR DNA Test. Kimball genetics [On-line information]. Available online at http://www.kimballgenetics.com/tests-mthfr.html through http://www.kimballgenetics.com. Accessed October 2010.