ARUP's Laboratory Test Directory
| 0051732: Cystic Fibrosis (CFTR) 32 Mutations with Reflex to Sequencing and Reflex to Deletion/Duplication |
![[ image for: Patient History For Cystic Fibrosis]](icon_18.jpg){kind=icon} | Patient History For Cystic Fibrosis |
| Test Mnemonic: CF COMP | |
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Methodology: Polymerase Chain Reaction/Fragment Analysis/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed: Sun-Sat Reported: 7-35 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. Stability: Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable |
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| Reference Interval: |
| Interpretive Data: | |
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Background information for Cystic Fibrosis (CFTR) 32 Mutations with Reflex to Sequencing and 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 or Ashkenazi Jewish, 1 in 8,000 Hispanics, 1 in 15,000 African Americans, 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. Panel Mutations Tested: G85E, R117H, I148T, R334W, R347P, R347H, 394delTT, A455E, I507del, F508del, V520F, G542X, S549N, S549R, G551D, R553X, R560T, 621+1G>T, 711+1G>T, 1078delT, R1162X, W1282X, N1303K, 1717-1G>A,1898+1G>A, 2184delA, 2789+5G>A, 3120+1G>A, 3659delC, 3849+10kbC>T, 3876delA, 3905insT. Clinical Sensitivity: 99 percent. Methodology for Panel: PCR, oligonucleotide ligation assay (OLA), and fluorescent hybridization probes. Methodology for Sequencing: Bidirectional sequencing of the 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: Greater than 99 percent. Limitations: Rare diagnostic errors can occur due to primer and probe site mtuations. The breakpoints of large deletions/duplications will not be determined. Regulatory region and intronic mutations will not be detected. Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com. 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 the Cystic Fibrosis 32 mutation panel identifies less than two deleterious mutations, CFTR gene sequencing will be performed. After CFTR gene sequencing, if less than two deleterious mutations are identified, the CFTR deletion/duplication assay will be performed. |
| CPT Code(s): | |
| 83890 Isolation; 83900 Multiplex amplification; 83901 x31 Additional amplification; 83914 x33 OLA; 83909 Capillary electrophoresis; 83912 Interpretation and report. If reflexed to sequencing, add 83891 Isolation; 83898 x30 Amplification; 83904 x30 Sequencing; 83909 Capillary electrophoresis. 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. |