Ordering Recommendation

For individuals with suspected CF but without 2 pathogenic variants detected by the CF 165 pathogenic variants test. This test is NOT indicated for routine obstetric carrier screening.




Polymerase Chain Reaction/Sequencing




19-28 days

New York DOH Approval Status

This test is New York DOH approved.

Specimen Required

Patient Preparation

Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature


Unacceptable Conditions

Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services at (800) 522-2787.


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

Reference Interval

By report

Interpretive Data

Background Information for Cystic Fibrosis (CFTR) Sequencing:
Chronic sino-pulmonary disease, gastrointestinal malabsorption/pancreatic insufficiency, and obstructive azoospermia. Findings are often limited to a single organ system such as isolated pancreatitis, bilateral absence of the vas deferens, nasal polyposis, or bronchiectasis in non-classic cystic fibrosis (CF).
Incidence of Classic CF: 1 in 3,000 Caucasians or Ashkenazi Jewish, 1 in 8,000 Hispanics, 1 in 15,000 African Americans, 1 in 32,000 Asians.
Incidence of Nonclassic CF: Unknown.
Inheritance: Autosomal recessive.
Penetrance: High for severe mutations, variable for mild/moderate mutations.
Cause of Classic CF: Two deleterious CFTR mutations on opposite chromosomes.
Cause of Nonclassic CF:  Typically one severe and one mild/moderate CFTR mutations on opposite chromosomes.
Clinical Sensitivity: 97 percent.
Bidirectional sequencing of the entire CFTR coding region, intron-exon boundaries, and two deep intronic mutations.
Analytical Sensitivity and Specificity:
99 percent.
: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, large gene deletions/duplications and some deep intronic mutations will not be detected.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US 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)


This test is offered for affected individuals only. Please consult with ARUP Genetic Counselors for appropriate use of test.

Hotline History


CPT Codes



Component Test Code* Component Chart Name LOINC
0051111 Cystic Fibrosis (CFTR) Sequencing 21654-9
2001345 CF CFTR Specimen 31208-2
* 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.


  • CFTR sequencing
Cystic Fibrosis (CFTR) Sequencing (Temporary Referral as of 12/07/20)