Interpretive Handbook

Test 88880 :
CFTR Gene, Known Mutation

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Cystic fibrosis (CF), in the classic form, is a severe autosomal recessive disorder characterized by a varied degree of chronic obstructive lung disease and pancreatic enzyme insufficiency. Clinical diagnosis is generally made based on these features, combined with a positive sweat chloride test or positive nasal potential difference. CF can also have an atypical presentation and may manifest as congenital bilateral absence of the vas deferens (CBAVD), chronic idiopathic pancreatitis, bronchiectasis, or chronic rhinosinusitis. Several states have implemented newborn screening for CF, which identifies potentially affected individuals by measuring immunoreactive trypsinogen in a dried blood specimen collected on filter paper.


If a clinical diagnosis of CF has been made, molecular testing for common CF mutations is available. To date, over 1,500 mutations have been described within the CF gene, named cystic fibrosis transmembrane conductance regulator (CFTR). The most common mutation, deltaF508, accounts for approximately 67% of the mutations worldwide and approximately 70% to 75% in the North American Caucasian population. Most of the remaining mutations are rather rare, although some show a relatively higher prevalence in certain ethnic groups or in some atypical presentations of CF, such as isolated CBAVD.  


The recommended approach for confirming a CF diagnosis or detecting carrier status begins with molecular tests for the common CF mutations (eg, CFPB / Cystic Fibrosis Mutation Analysis, 106-Mutation Panel). This test, CFTR Gene, Full Gene Analysis may be ordered if 1 or both disease-causing mutations are not detected by the targeted mutation analysis (CFPB / Cystic Fibrosis Mutation Analysis, 106-Mutation Panel). Full gene analysis, sequencing and dosage analysis of the CFTR gene, is utilized to detect private mutations. Together, full gene analysis of the CFTR gene and deletion/duplication analysis identify over 98% of the sequence variants in the coding region and splice junctions.


Of note, CFTR potentiator therapies may improve clinical outcomes for patients with a clinical diagnosis of CF and at least 1 copy of the G551D mutation.  


See Cystic Fibrosis Molecular Diagnostic Testing Algorithm in Special Instructions for additional information.

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnostic confirmation of cystic fibrosis when familial mutations have been previously identified


Carrier screening of at-risk individuals when a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene has been identified in an affected family member


Identification of patients who may respond to CFTR potentiator therapy

Interpretation Provides information to assist in interpretation of the test results

An interpretive report will be provided.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

The identification of a disease-causing mutation in an affected family member is necessary before predictive testing for other family members can be offered. If a familial mutation has not been previously identified, order CFPB / Cystic Fibrosis Mutation Analysis, 106-Mutation Panel or CFTRM / CFTR Gene, Full Gene Analysis.


Analysis is performed for the familial mutations provided only. This assay does not rule out the presence of other mutations within this gene or within other genes that may be associated with cystic fibrosis.


Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Any error in the diagnosis or in the pedigree provided to us, including false-paternity, could lead to an erroneous interpretation of results.


A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.


Rare polymorphisms exist that could lead to false-negative or false-positive results. If the results obtained do not match the clinical findings, additional testing should be considered.


In addition to disease-related probes, the multiplex ligation-dependent probe amplification technique utilizes probes localized to other chromosomal regions as internal controls. In certain circumstances, these control probes may detect other diseases or conditions for which this test was not specifically intended. Results of the control probes are not normally reported. However, in cases where clinically relevant information is identified, the ordering physician will be informed of the result and provided with recommendations for any appropriate follow-up testing.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Clinical References Provides recommendations for further in-depth reading of a clinical nature

1. Rosenstein BJ, Zeitlin PL: Cystic fibrosis. Lancet 1998 Jan 24;351(9098):277-282

2. Strom CM, Huang D, Chen C, et al: Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test. Genet Med 2003 Jan-Feb;5(1):9-14

3. Ramsey BW, Davies J, McElvaney NG, et al: A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation. NEJM 2011 Nov 3:365(18):1663-1672