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Cystic Fibrosis

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Tests: CF Gene Mutations Testing, Sweat Chloride Test, Immunoreactive Trypsinogen, Fecal Fat
Conditions: Lung Diseases, Malabsorption, Pancreatic Diseases
Screening: Pregnancy & Prenatal Testing: Cystic Fibrosis, Newborns: Congenital and Genetic Disorders
Articles: Universe of Genetic Testing

Elsewhere On The Web
Cystic Fibrosis Foundation
Boomer Esiason Foundation: Fighting Cystic Fibrosis
ACOG: Cystic Fibrosis: Prenatal Screening and Diagnosis
National Heart Lung and Blood Institute: What is Cystic Fibrosis?
National Newborn Screening & Genetics Resource Center: For Families
National Society of Genetic Counselors

Article Sources

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

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.

Kaneshiro, N. (2016 February 15 Updated). Cystic fibrosis. MedlinePlus Medical Encyclopedia. Available online at https://medlineplus.gov/ency/article/000107.htm. 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.

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.

(2016). About Cystic Fibrosis. Cystic Fibrosis Foundation. Available online at https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/. Accessed on 11/12/16.

Mayo Clinic Staff (2016 October 13 Updated). Cystic Fibrosis. Mayo Clinic. Available online at http://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/home/ovc-20211890. Accessed on 11/12/16.

(2016). Carrier Testing for CF. Cystic Fibrosis Foundation. Available online at https://www.cff.org/What-is-CF/Testing/Carrier-Testing-for-CF/. Accessed on 11/12/16.

2017 Johns Hopkins Cystic Fibrosis Center. Diagnosis: Testing: Nasal Potential Difference. Available online at http://www.hopkinscf.org/what-is-cf/diagnosis/testing/nasal-potential-difference/. Accessed January 2017.

Pettit R, Fellner C. CFTR Modulators for the Treatment of Cystic Fibrosis, P T. 2014 Jul; 39(7): 500-511. Available online at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103577/. Accessed January 2017.

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.

CFF. Sweat Testing Procedure and Commonly Asked Questions. Cystic Fibrosis Foundation [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.

MedlinePlus (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.

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 through 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.

(July 2008) National Heart, Lung and Blood Institute. Diseases and Conditions: What is Cystic Fibrosis? Available online at http://www.nhlbi.nih.gov/health/dci/Diseases/cf/cf_what.html. Accessed January 2009.

Cystic Fibrosis Foundation. Treatments: Lung Transplantation. Available online at http://www.cff.org/treatments/LungTransplantation/. Accessed January 2009.

Liou TG, Adler FR, Cox DR, Cahill BC. Lung transplantation and survival in children with cystic fibrosis. N Engl J Med. 2007 Nov 22; 357(21):2 143-52. Available online through http://www.ncbi.nlm.nih.gov/pubmed. Accessed January 2009.

Cystic Fibrosis Foundation. About Cystic Fibrosis. Available online at http://www.cff.org/AboutCF/. Accessed January 2009.

American Lung Association. What is Cystic Fibrosis? Available online at http://www.lungusa.org/site/apps/nlnet/content3.aspx?c=dvLUK9O0E&b=4294229&ct=5290039. 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.

(2011 June 1). What is Cystic Fibrosis? National Heart Lung and Blood Institute [On-line information]. Available online at http://www.nhlbi.nih.gov/health/health-topics/topics/cf/. Accessed August 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.

Barclay, L. (2011 March 26). ACOG Updates Cystic Fibrosis Screening Guidelines. Medscape Today News from NewsObstet Gynecol. V 117:1028-1031. [On-line information]. Available online at http://www.medscape.com/viewarticle/739658. Accessed August 2012.

Kaneshiro, N. (Updated 2012 May 16). Cystic Fibrosis. MedlinePlus Medical Encyclopedia [On-line information]. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/000107.htm. Accessed August 2012.

(2011 May 8). About Cystic Fibrosis, Frequently Asked Questions. Cystic Fibrosis Foundation [On-line information]. Available online at http://www.cff.org/AboutCF/Faqs/. Accessed August 2012.

Mayo Clinic Staff (2012 June 13). Cystic fibrosis. MayoClinic.com [On-line information]. Available online at http://www.mayoclinic.com/print/cystic-fibrosis/DS00287/DSECTION=all&METHOD=print. Accessed August 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.

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