Cystic Fibrosis Screen

Test Code

CFSCR

Quest Code

10458

Alias/See Also

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 an EDTA (lavender-top) tube

Minimum Volume

3 mL whole blood • 2 mL saliva

Other Acceptable Specimens

4 mL whole blood collected in: ACD (yellow-top) tube or Sodium heparin (green-top) tube • 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 room temperature immediately. Do not freeze. For prenatal diagnosis, please use test 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 room temperature. 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 sample and using sterile techniques. Rinse mouth prior to spitting.

Transport Temperature

Room temperature

Specimen Stability

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

Saliva
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Call Lab

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

Night Sets up 7 days a week.

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 92690-6130

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.