ARUP's Laboratory Test Directory
| 0051642: Cystic Fibrosis (CFTR) Deletion/Duplication |
![[ image for: Patient History For Cystic Fibrosis]](icon_18.jpg){kind=icon} | Patient History For Cystic Fibrosis |
| Test Mnemonic: CFTRDELDUP | |
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Methodology: Multiplex Ligation Probe Amplification
Performed: Varies Reported: Within 14 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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| Interpretive Data: | |
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Background Information for Cystic Fibrosis Deletion and Duplication: Characteristics: Chronic sino-pulmonary disease, gastrointestinal malabsorption/pancreatic insufficiency, and obstructive azoospermia. Background Information for Cystic Fibrosis (CFTR) Deletion/Duplication: Characteristics: Chronic sino-pulmonary disease, gastrointestinal malabsorption/pancreatic insufficiency, and obstructive azoospermia. Incidence: 1 in 3000 Caucasians or Ashkenazi Jewish, 1 in 8000 Hispanics, 1 in 15,000 African-Americans, 1 in 32,000 Asians. Inheritance: Autosomal recessive. Penetrance: High for severe mutations, variable for mild mutations. Cause: Two deleterious CFTR mutations on different chromosomes. Two severe mutations result in classical symptoms of cystic fibrosis, while one severe and one mild mutation results in atypical symptoms. Mutations Detected: Large gene rearrangements (deletions and duplications). Clinical Sensitivity: Approximately 1-2% of CFTR mutations are large deletions or duplications. Method: Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large CFTR coding region deletions/duplications. Analytical sensitivity and specificity: 90% and 98%, respectively. Test Limitations: Deletion/duplication breakpoints will not be determined. CFTR single base pair substitutions, small deletions/duplications, and deep intronic and promoter mutations will not be detected. Mutations within the primer/probe regions could affect the analytical sensitivity of this assay. 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. |
| CPT Code(s): | |
| 83891 Isolation; 83896 Nucleic Acid Probes; 83898 Amplification; 83914 Extension; 83909 Capillary Electrophoresis; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders. |