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.

Mnemonic
CF-CFTR
Methodology

Polymerase Chain Reaction/Sequencing

Performed

Mon-Sat

Reported

19-28 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

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

Specimen Preparation

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

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks

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

Stability

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

Reference Interval

By report

Interpretive Data

Background Information for Cystic Fibrosis (CFTR) Sequencing:
Characteristics:
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.
Methodology:
Bidirectional sequencing of the entire CFTR coding region, intron-exon boundaries, and two deep intronic mutations.
Analytical Sensitivity and Specificity:
99 percent.
Limitations
: 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.

Compliance Category

Laboratory Developed Test (LDT)

Note

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

Hotline History
N/A
CPT Codes

81223

Components
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.
Aliases
  • CFTR sequencing
Cystic Fibrosis (CFTR) Sequencing