Cystic Fibrosis Complete Rare Variant Analysis, Entire Gene Sequence

Test Code

10917

CPT Codes
81223

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

5 mL whole blood collected in a EDTA (lavender-top) tube

Minimum Volume

3 mL

Other Acceptable Specimens

Whole blood collected in a: EDTA (royal blue-top), sodium heparin (green-top), or ACD solution A or B (yellow-top) tube

Instructions

Normal phlebotomy procedure. Specimen stability is crucial. Store at room temperature and ship immediately. Do not freeze.
Please note: Bone marrow acceptable (reference ranges do not apply). Extracted DNA not recommended.

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable

Methodology
Next Generation 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 the FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Set up: Daily; Report available: 43-50 days

Reference Range

See Laboratory Report

Clinical Significance

Cystic fibrosis (CF) is the most common recessive lethal genetic disorder affecting primarily Caucasians of Northern European descent, with an incidence of approximately 1 in 3300 births and a carrier rate of 1 in 29. This test analyzes approximately 1000 variants that account for greater than 98% of disease causing variants. This test is only appropriate when there is a strong likelihood of cystic fibrosis and the variant is not detected in the general cystic fibrosis variant panel and familial variants are unknown.

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.