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).

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation

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

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)
New York State Clients: 5 mL (Min: 2 mL)

Storage/Transport Temperature


Unacceptable Conditions

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


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


Massively Parallel Sequencing/Sequencing




10-15 days

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)


Gene Tested: CFTR

Hotline History


CPT Codes

81222, 81223


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.


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