Cystic Fibrosis (CFTR) Sequencing
0051110
Ordering Recommendation
For individuals suspected to be affected with CF but without 2 mutations detected by CF 32 mutation panel.
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.





See Compliance Statement C: www.aruplab.com/CS
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
Note
This test is offered for affected individuals only. Please consult with ARUP Genetic Counselors for appropriate use of test.
CPT Code(s)
81223
Components
Component Test Code*Component Chart NameLOINC
0051111Cystic Fibrosis (CFTR) Sequencing21654-9
2001345CF CFTR Specimen31208-2
* 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