ARUP's Laboratory Test Directory

Cystic Fibrosis (CFTR) Sequencing : 0051110
[ image for: Patient History For Cystic Fibrosis (CF) Testing]
Patient History For Cystic Fibrosis (CF) Testing
  


Mnemonic: CF-CFTR

Ordering Recommendation: Diagnostic testing for cystic fibrosis.
Methodology: Polymerase Chain Reaction/Sequencing
Performed: Mon-Sat
Reported: 19-28 days
Specimen Required: 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.

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

Stability (collection to initiation of testing): 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.
Mutations Detected:
Base pair substitutions and small deletions/duplications within the coding region and intron-exon boundaries; additionally, two deep intronic mutations (3849+10kbC>T and 1811+1.6kbA>G).
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
: Rare diagnostic errors can occur due to primer site mutations. 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