Cystic Fibrosis: CFTR Gene Deletion/Duplication

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Condition Description

Cystic Fibrosis (CF) is a chronic genetic condition involving multiple organ systems [1]. Classical CF primarily involves the respiratory and digestive systems, and may have a range of clinical severity. Pulmonary symptoms often include lower airway inflammation, chronic cough, chronic sinusitis, and recurrent infections. Digestive symptoms often include meconium ileus, pancreatic insufficiency resulting in malabsorption and/or failure to thrive, diabetes mellitus, and hepatobiliary disease. Congenital bilateral absence of the vas deferens (CBAVD) is seen in men without pulmonary or digestive symptoms of CF, and results in azoospermia [2]. CBAVD is a significant cause of male infertility.

CF is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Individuals with mutations in the CFTR gene may also present with milder or atypical symptoms such as pancreatitis or chronic sinusitis.

The incidence of CF is approximately 1 in 3200 live births among Caucasians and is inherited in an autosomal recessive pattern. The carrier frequency is estimated to be approximately 1 in 22-28 in the Caucasian population, 1 in 29 in the Ashkenazi Jewish population, 1 in 60-65 in the African American population, 1 in 46 in the Hispanic population and 1 in 90 in the Asian population.

Initial evaluation and screening of patients for CFTR mutations is accomplished through a panel of 23 common mutations as recommended by the American College of Medical Genetics Subcommittee on Cystic Fibrosis [3] and American College of Obstetrics and Gynecologists [4]. The detection rate of this panel depends on the patients ethnicity (refer to the Cystic Fibrosis Common Mutation Panel).

When the common mutation panel is negative and mutations to the CFTR gene are suspected, sequencing of the entire gene is recommended to detect more rare mutations. Gene sequence analysis is available to test for mutations in the CFTR gene (JK).

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Visit for patient-friendly information on cystic fibrosis.

1. Moskowitz et al. CFTR-related disorders (2005).
2. Xu et al. Cystic fibrosis transmembrane conductance regulator is vital to sperm fertilizing capacity and male fertility (2007). PNAS 104(23):9816-21.
3. Watson, M. et al. Cystic Fibrosis population carrier screening: 2004 revision of the American College of Medical Genetics mutation panel (2004). Genet Med 6(5):387-91.
4. ACOG Committee Opinion. Update on Carrier Screening for Cystic Fibrosis (2005). Obstetr Gynecol 106:1465-8.
5. Heim et al. Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel (2001). Genet Med 3(3):168-76.
6. Strom et al. (2003) Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test. Genet Med 5(1):9-14.
7. Chevalier-Porst (2005) Identification and Characterization of Three Large Deletions and a Deletion/Polymorphism in the CFTR Gene. Hum Mut Mutation in Brief #806 Online

Genes (1)


Testing is indicated for:

  • Patients suspected to have a mutation to the CFTR gene and who tested negative for mutation by the common mutation panel.
  • Family members of an affected individual at risk to be carriers of CF.


DNA isolated from peripheral blood is hybridized to a CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes which cover the entire genomic region.

Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.


Detection is limited to duplications and deletions. Array CGH will not detect point mutations or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient's clinical phenotype.

Specimen Requirements

Submit only 1 of the following specimen types

Preferred specimen type: Whole Blood

Type: Whole Blood

Specimen Requirements:

In EDTA (purple top) or ACD (yellow top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml

Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.

Type: Saliva

Specimen Requirements:

OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.

Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.

Special Instructions

Completion of the cystic fibrosis common mutation panel should be completed PRIOR to CFTR gene sequence analysis.

  • CF common mutation panel (CF).
  • Ashkenazi Jewish Carrier Panel is available to screen for the panel of 9 autosomal recessive conditions common in individuals of Ashkenazi Jewish background
  • Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by sequencing.
  • Prenatal testing is available for known familial mutations only. Please call the Laboratory Genetic Counselor before collecting a fetal sample.

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