Reference Interval:
| Test Number
| Components
| Reference Interval
| | 0051110 | Cystic Fibrosis (CFTR) Sequencing
| By report
| | 0051642 | Cystic Fibrosis (CFTR) Deletion/Duplication
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| Interpretive Data: |
Interpretive Data:
Background information for Cystic Fibrosis (CFTR) Sequencing with Reflex to Deletion/Duplication
Classic CF Characteristics: Chronic sino-pulmonary disease, gastrointestinal malabsorption/pancreatic insufficiency, and congenital bilateral absence of the vas deferens.
Atypical CF Characteristics: Mono-symptomatic disease such as chronic pancreatitis, bilateral absence of the vas deferens, nasal polyps, or bronchiectasis.
Incidence: 1 in 3,000 Caucasians and Ashkenazi Jewish, 1 in 8,000 Hispanics, 1 in 15,000 African-Americans and 1 in 32,000 Asians.
Inheritance: Autosomal recessive.
Penetrance: Complete for severe mutations, variable for mild mutations.
Cause of Classic CF: Two severe cystic fibrosis transmembrane conductance regulator (CFTR) mutations.
Cause of Atypical CF: Often one severe and one mild CFTR mutation.
Mutations Detected: Point mutations and small insertions/deletions within the coding region and intron/exon boundaries, large gene rearrangements (deletions and duplications).
Clinical Sensitivity: 99 percent
Methodology for Sequencing: Bidirectional sequencing of the entire CFTR coding region and intron/exon boundaries.
Methodology for Deletion/Duplication: Multiplex ligation-dependent probe amplification (MLPA) to detect large CFTR coding region deletions /duplications.
Analytical Sensitivity and Specificity for Sequencing: 99 percent.
Analytical Sensitivity and Specificity for MLPA: 90 percent and 98 percent, respectively.
Limitations: Rare diagnostic errors can occur due to primer and probe site mutations. Breakpoints for large deletions/duplications will not be determined. Regulatory region and deep intronic mutations will not be detected.
Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.
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| Note: |
If CFTR gene sequencing identifies less than two deleterious mutations, the CFTR deletion/duplication assay will be performed.
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| CPT Code(s): |
Sequencing: 83891 Isolation; 83898 x30 Amplification; 83904 x30 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report. If reflexed to Deletion/Duplication, add 83896 Nucleic Acid Probes; 83898 Amplification; 83914 Extension; 83909 Capillary electrophoresis. Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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