ARUP's Laboratory Test Directory
| 0051640: Cystic Fibrosis (CFTR) Sequencing with Reflex to Deletion/Duplication |
![[ image for: Patient History For Cystic Fibrosis]](icon_18.jpg){kind=icon} | Patient History For Cystic Fibrosis |
| Test Mnemonic: CFTR FGA | |
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Methodology: Polymerase Chain Reaction/Sequencing/Multiplex Ligation Probe Amplification
Performed: Varies Reported: Within 35 days |
| Specimen Required: | |
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Collect: One 3 mL lavender (EDTA), pink (K2EDTA) or yellow (ACD Solution A or B).
Transport: 3 mL whole blood at 2-8°C. (Min: 2 mL) Pediatric Collection/Transport: 2 mL whole blood at 2-8°C. Remarks: Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services. Stability: Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable |
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| Reference Interval: |
| Interpretive Data: | |
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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. Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com. Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory. |
| Note: | |
| If CFTR gene sequencing identifies less than two deleterious mutations, the CFTR deletion/duplication assay will be performed. |
| 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. |