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Test Name

Cystic Fibrosis Gene Deletion or Duplication

CPT Code(s)

81222

Physician Attestation of Informed Consent

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.

Clinical Significance

This test detects large deletion or duplication mutations in the CF gene in CF patients or patients with potential diagnosis of CF where only one or no mutation has been identified.

Methodology

Capillary Electrophoresis • Multiplex PCR

Reference Range(s)

Cystic Fibrosis (CF) is almost always caused by mutations in the CF transmembrane regulator (CFTR) gene. More than 1,000 mutations in the CFTR gene have been described (http://www.genet.sickkids.on.ca/cftr-cgi-bin/FullTable). As many as 30% of patients with the diagnosis will not have 2 CFTR mutations discovered even after extensive sequencing assays are performed. In our experience, approximately 50% of these patients have a deletion or duplication of the CFTR gene as their second CF mutation.

In this assay, fragments representing the promoter and the 27 exons of the CFTR gene are amplified in a single multiplex polymerase chain reaction (PCR) in the presence of fluorescently-labeled primers. Products of the amplification reactions are analyzed on an automated capillary DNA sequencer.

This assay will detect deletions and/or duplications involving one or more exons, as well as the entire coding sequence of CFTR. This assay cannot detect smaller genetic alterations, such as point mutations affecting amino acid coding or mRNA splicing.
Since genetic variation and other factors can affect the accuracy of direct mutation testing, the results of this testing should always be interpreted in light of clinical and familial data. For assistance with interpretation of these results, please contact your local Quest Diagnostics genetic counselor or call 1-866-GENEINFO (436-3463).

Alternative Name(s)

CF Dosage,Cystic Fibrosis Dosage,CF Deletion/Duplication,Cystic Fibrosis Deletion/Duplication

To view specimen requirements and codes please Select a regional laboratory.

Not sure which laboratory serves your office? Call us 866-MYQUEST (866-697-8378)

Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

* The tests listed by specialist are a select group of tests offered. For a complete list of Quest Diagnostics tests, please refer to our Directory of Services.

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Cystic Fibrosis Gene Deletion or Duplication
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