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Cystic Fibrosis 139 variants


Gene Reviews

Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity vary among affected individuals.

Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. In people with cystic fibrosis, the body produces mucus that is abnormally thick and sticky. This abnormal mucus can clog the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation. Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs.

CF is inherited in an autosomal recessive manner and affects both males and females. It is caused by a mutation in the CFTR gene on chromosome 7. DeltaF508, the most common mutation, results in the production of a misfolded CFTR protein that is retained in the endoplasmic reticulum and targeted for degradation.

We offer analysis for 139 variants associated with CF.

Detection:   ~ 97% detection in the Ashkenazi Jewish population
                   ~ 88% detection in the non Hispanic Caucasian population
                   ~ 69% detection in the African American population
                   ~ 57% detection in the Hispanic Caucasian population
                      Unknown detection in the Asian American population

The detection rates reflect those published in the CFTR - Related Disorders GeneReviews.

Methodology: NGS (FDA cleared IVD assay)

Purpose: Confirmation of Clinical Diagnosis/Carrier Testing

ICD-10 Code E84.9/Z13.228/Z31.430

Test Requisition: Molecular Requisition

CPT Code: 81220 Cost: $393.00

Turn-around-time: 21 days

Specimen Requirements

Shipping Information


1. Accurso FJ. (2006) "Update in cystic fibrosis 2005". Am J Respir Crit Care Med. 1;173(9):944-7. Review.

2. Merlo CA, Boyle MP.(2003) "Modifier genes in cystic fibrosis lung disease". J Lab Clin Med. 141(4):237-41. Review.

3. Ratjen F, Döring G.(2003) "Cystic fibrosis". Lancet. 22;361(9358):681-9. Review.

4. Rowe SM, Miller S, Sorscher EJ. (2005) "Cystic fibrosis". N Engl J Med. 12;352(19):1992-2001.








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Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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