Cystic Fibrosis Screen

Test Code
CF SCREEN (10458)

Quest Code
10458

CPT Codes
81220<br />

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.

Preferred Specimen
4 mL whole blood collected in EDTA (lavender-top) tube

Minimum Volume
3 mL

Other Acceptable Specimens
Whole blood collected in: ACD solution B (yellow-top), sodium heparin (green-top), EDTA (royal blue-top), lithium heparin (green-top) or ACD solution A (yellow-top) • Minimum 2 mL Saliva collected in an Oragene DNA self-collection kit

Instructions
Please indicate the ethnicity of the patient.

Whole blood:
Normal phlebotomy procedure. Specimen stability is crucial. Store and ship ambient immediately. Do not freeze. For prenatal diagnosis, please use test code 10226X, Cystic Fibrosis DNA Analysis, Fetus.

Saliva:
Rinse mouth, spit into collection tube until liquid phase reaches mark, seal with cap, replace funnel with small cap. See package insert. Store and ship ambient. Do not freeze. The oragene reagent is released from the cap. The reagent stabilizes/releases DNA from saliva.

For Genetic Testing, original tube required. Aliquots for other testing from original tube are permitted, if performed without cross contamination of samples and using sterile techniques. Rinse mouth prior to spitting.

Transport Temperature
Room temperature

Specimen Stability
Whole blood
Room temperature: 8 days
Refrigerated: 8 days

Saliva
Room temperature: 14 days
Refrigerated: 14 days

Methodology
Multiplex Polymerase Chain Reaction • Massively Parallel Sequencing

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
Sun-Sat

Limitations
Approximately 18% of affected Caucasian individuals have only one detectable mutation and 1% have no detectable mutations when using this screen.

Reference Range
See Laboratory Report

Clinical Significance
General screen for carrier status and assessment of CF risk. This test will identify approximately 90% of Cystic Fibrosis (CF) mutations in the Caucasian population, and 97% in the Ashkenazi Jewish population.

Performing Laboratory
Quest Diagnostics Nichols Institute
33608 Ortega Highway
San Juan Capistrano, CA 92675



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.