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CF Gene Mutations Testing

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Also known as: Cystic Fibrosis Genotyping; CF DNA Analysis; CF Gene Mutation Panel; CF Molecular Genetic Testing; Cystic Fibrosis Transmembrane Conductance Regulator Mutation Analysis; CFTR Mutation Analysis
Formal name: Cystic Fibrosis Gene Mutation Panel

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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. To access online sources, copy and paste the URL into your browser.

Sources Used in Current Review

(© 2016). Diagnosing and Treating Cystic Fibrosis. American Lung Association. Available online at http://www.lung.org/lung-health-and-diseases/lung-disease-lookup/cystic-fibrosis/diagnosing-and-treating-cf.html. Accessed on 11/12/16.

Lyon, E. et. Al (2016 October Updated). Cystic Fibrosis – CF. ARUP Consult. Available online at https://arupconsult.com/content/cystic-fibrosis. Accessed on 11/12/16.

Sharma, G. (2016 June 8 Updated). Cystic Fibrosis. Medscape Drugs and Diseases. Available online at http://emedicine.medscape.com/article/1001602-overview Accessed on 11/12/16.

(© 2106).Diagnosis: Testing: CFTR Mutation Analysis. John Hopkins Cystic Fibrosis Center. Available online at http://www.hopkinscf.org/what-is-cf/diagnosis/testing/cftr-mutation-analysis/ Accessed on 11/12/16.

(© 1995–2016). Cystic Fibrosis Mutation Analysis, 106-Mutation Panel. Mayo Clinic Mayo Medical Laboratories. Available online at http://www.mayomedicallaboratories.com/test-catalog/Overview/35386. Accessed on 11/12/16.

(2011 April, 2014 Reaffirmed). Update on Carrier Screening for Cystic Fibrosis. The American College of Obstetricians and Gynecologists. Available online at http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Update-on-Carrier-Screening-for-Cystic-Fibrosis. Accessed on 11/12/16.

(2016 February). Cystic Fibrosis: Prenatal Screening and Diagnosis. The American College of Obstetricians and Gynecologists. Available online at http://www.acog.org/Patients/FAQs/Cystic-Fibrosis-Prenatal-Screening-and-Diagnosis. Accessed on 11/12/16.

Sources Used in Previous Reviews

Thomas, Clayton L., Editor (1997). Taber's Cyclopedic Medical Dictionary. F.A. Davis Company, Philadelphia, PA [18th Edition].

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

NIDDK (July 1997). Cystic Fibrosis Research Directions. The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) [NIH Publication No. 97-4200]. Available online at http://www.niddk.nih.gov/health/endo/pubs/cystic/cystic.htm.

Cystic Fibrosis Foundation. Sweat Testing Procedure and Commonly Asked Questions. [On-line information]. Available online at http://www.cff.org/publications01.htm.

Tait, J., et. al. (26 March 2001). Cystic Fibrosis. GENEReviews [On-line information]. Available online at http://www.genetests.org/.

Mayo Clinic (2001, February 09). What is Cystic Fibrosis? Mayo Clinic [On-line information]. Available online at http://www.mayoclinic.com/invoke.cfm?objectid=2CEBF76F-D36A-4D15-B937BFF91AB51438.

MedinePlus (2002, January 2, Updated). Cystic Fibrosis. MedlinePlus Health Information [On-line Information]. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/000107.htm.

MedlinePlus (2002, January 2, Updated). Sweat Electrolytes. MedlinePlus Health Information [On-line Information]. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/003630.htm.

MedlinePlus (2002, January 2, Updated). Trypsin and chymotrypsin in stool. MedlinePlus Health Information [On-line Information]. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/003594.htm.

Mountain States Genetics (1999, September, Revised). Cystic Fibrosis (CF). Newborn Screening Practitioner's Manual [On-line information]. Available online at http://www.mostgene.org/pract/prac26.htm.

National Institutes of Health (1995, November). Facts About Cystic Fibrosis. National Heart, Lung, and Blood Institute NIH Publication No. 95-3650 [On-line information]. Available online at http://www.nhlbi.nih.gov/health/public/lung/other/cf.htm.

Quest Diagnostics NEWS (2002, Winter). What is the Best Test to Screen for Cystic Fibrosis? [On-line serial]. PDF available for download at http://www.questdiagnostics.com/hcp/files/02winter_newsletter.pdf through http://www.questdiagnostics.com.

MedlinePlus (2002, January 2, Updated). Neonatal cystic fibrosis screening. MedlinePlus Health Information [On-line Information]. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/003409.htm.

Drkoop (2001). Cystic fibrosis. Medical Encyclopedia [On-line information]. Available online at http://www.drkoop.com/conditions/ency/article/000107.htm.

MedlinePlus (2002, January 2, Updated). Trypsinogen. MedlinePlus Health Information [On-line Information]. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/003560.htm.

Biomedical Hypertext (1999 May 20, last update). Exocrine Secretions of the Pancreas. Colorado State University [On-line information]. Available online at http://arbl.cvmbs.colostate.edu/hbooks/pathphys/digestion/pancreas/exocrine.html.

UPCMD (1998 – 2002). Cystic Fibrosis. University Pathology Consortium, LLC [On-line information]. Available online at http://www.upcmd.com/dot/examples/00218/description.html.

Sainato, D., (2002, March). Genetic Testing for CF Going Mainstream? Clinical Laboratory News [Journal], Vol 28.

Peter Jacky, PhD, FACMG. Director of Cytogenetics and Molecular Genetics, Airport Way Regional Laboratory, Portland, OR.

(Update April 23, 2008) National Newborn Screening and Genetics Resources Center. National Newborn Screening Status Report. Available online at http://genes-r-us.uthscsa.edu/nbsdisorders.htm. Accessed January 2009.

American College of Obstetricians and Gynecology (ACOG). Cystic fibrosis Carrier Testing: The Decision is Yours. Available online at http://www.acog.org/from_home/wellness/cf001.htm. Accessed January 2009.

(February 19, 2008) American Medical Association. Cystic fibrosis testing (including recommendations by ACMG and ACOG). Available online at http://www.ama-assn.org/ama/pub/category/9181.html. Accessed January 2009.

Human Genome Project Information. Genetic Disease Profile: Cystic Fibrosis. Available online at http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/cf.shtml. Accessed January 2009.

(November 17 2008) MedlinePlus Medical Encyclopedia. Cystic Fibrosis. Available online at http://www.nlm.nih.gov/medlineplus/cysticfibrosis.html. Accessed January 2009.

(July 2008) National Heart, Lung, Blood Institute. Cystic Fibrosis, How Is Cystic Fibrosis Diagnosed? Available online at http://www.nhlbi.nih.gov/health/dci/Diseases/cf/cf_diagnosis.html. Accessed January 2009.

Denise I. Quigley, PhD, FACMG. Co-Director Cytogenetics/Molecular Genetics, Airport Way Regional Laboratory, Portland, OR.

Peter Jacky, PhD, FACMG. Director of Cytogenetics and Molecular Genetics, Airport Way Regional Laboratory, Portland, OR.

(Updated 2011 September 27) Learning about Cystic Fibrosis. National Human Genome Research Institute [On-line information]. Available online at http://www.genome.gov/10001213. Accessed August 2012.

(© 1995-2012). Cystic Fibrosis Mutation Analysis, 106-Mutation Panel. Mayo Clinic Mayo Medical Laboratories [On-line information]. Available online at http://www.mayomedicallaboratories.com/test-catalog/Overview/9497. Accessed September 2012.

Sharma, G. (2012 May 15). Cystic Fibrosis. Medscape Reference [On-line information]. Available online at http://emedicine.medscape.com/article/1001602-overview. Accessed August 2012.

Ooi, C. et. al. (2012 July 27). Comparing the American and European Diagnostic Guidelines for Cystic Fibrosis Same Disease, Different Language? Medscape Today News from Thorax. v67 (7):618-624. [On-line information]. Available online at http://www.medscape.com/viewarticle/766511. Accessed September 2012.

Bender, L. et. al. (2011 September 29). Kids in America Newborn Screening for Cystic Fibrosis. Medscape Today News from Lab Med v42 (10):595-601 [On-line information]. Available online at http://www.medscape.com/viewarticle/750133. Accessed September 2012.

Grenache, D. et. al. (Updated 2012 April) Cystic Fibrosis – CF. ARUP Consult [On-line information]. Available online at http://www.arupconsult.com/Topics/CF.html?client_ID=LTD#tabs=0. Accessed September 2012.

Cystic Fibrosis Foundation. Cystic Fibrosis Newborn Screening. Available online at http://www.cff.org/AboutCF/Testing/NewbornScreening/ScreeningforCF/. Accessed May 2012.

American College of Medical Genetics. Technical Standards and Guidelines for CFTR Mutation Testing, 2006 Edition.

Timothy S. Uphoff, Ph.D., D(ABMG), MLS(ASCP)CM. Section Head Molecular Pathology Laboratory, Marshfield Labs, Marshfield Clinic, Marshfield WI.