Cystic Fibrosis Mutation Screen with Reflex to CF Complete (Clinics Only)

Test Code

17726

CPT Codes
81220

Includes

Dependent upon the combination of the results of initial CF screen, family history, and presence of known CF mutations, the Cystic Fibrosis Complete Rare Variant Analysis, Entire Gene Sequence may be performed at an additional charge (CPT code(s): 81223). This test is performed upon verification by a Genetic Counselor.

Preferred Specimen

5 mL whole blood collected in an EDTA (lavender-top or royal blue-top), sodium heparin (green-top), or ACD (yellow-top) tube

Minimum Volume

3 mL

Other Acceptable Specimens

Extracted DNA (standard: 100 ng), or bone marrow, or fresh (unfixed tissue, or buffy coat, submitted in a plastic, leak-proof (preservative-free) container - (Call Client Services)

Instructions

Draw 3-8 cc whole blood in normal phlebotomy procedure. Do not spin. Store and ship at ambient temperature. Do not freeze.

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable

Methodology
See individual tests

FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Set up: Daily; Report available: 8-9 days

Reference Range

See Laboratory Report

Clinical Significance

This test is primarily recommended for use in individuals who are symptomatic for cystic fibrosis (CF). It is comprised of two parts: targeted screening and full sequencing of the CFTR gene. The first part of this test is targeted screening for the most common CF variants seen in the general population. For many individuals affected with cystic fibrosis, both variants will be identified with targeted screening. If one or no variants are identified with targeted screening in a symptomatic individual, cystic fibrosis sequencing is appropriate and the test reflexes to full gene sequencing of the CFTR gene.

This test is not intended for routine carrier screening for couples who are pregnant or anticipate becoming pregnant. The recommended test for routine CF carrier screening analyzes an expanded number of variants that are known to cause CF. If a carrier screening panel that includes CF is desired, please see the Quest Test Directory for panel options.

CF Sequencing as a first line test may be useful in situations where an individual is symptomatic for CF and initial targeted screening is not desired.

Performing Laboratory

Quest Diagnostics Nichols Institute-San Juan Capistrano, CA

33608 Ortega Highway

San Juan Capistrano, CA 92675-2042

Last Updated: November 6, 2024

The CPT Codes provided in this document 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 payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.