Cystic Fibrosis (CFTR) Sequencing
0051110
Ordering Recommendation
Diagnostic testing for cystic fibrosis.
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.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS  
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 Name
0051111Cystic Fibrosis (CFTR) Sequencing
2001345CF CFTR Specimen
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Aliases
  • CFTR sequencing