Ordering Recommendation

For use in individuals with symptoms of cystic fibrosis (CF) or a CFTR-related disorder. This test is NOT indicated for routine carrier screening; refer to Cystic Fibrosis (CFTR) Expanded Variant Panel (2013661).

Mnemonic

CFTR NGS

Methodology

Massively Parallel Sequencing/Sequencing

Performed

Varies

Reported

3 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender or pink (EDTA).

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. This test was performed in a CLIA-certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)

Note

Gene Tested: CFTR

Hotline History

N/A

CPT Codes

81222, 81223

Components

Component Test Code* Component Chart Name LOINC
3004746 CFTR Specimen 66746-9
3004747 CFTR Interp 21655-6
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • CF
  • CFTR-related disorder
Cystic Fibrosis (CFTR) Sequencing and Deletion/Duplication