ARUP's Laboratory Test Directory
| 0051150: Cystic Fibrosis (CFTR) 32 Mutations with Reflex to Sequencing |
![[ image for: Patient History For Cystic Fibrosis]](icon_18.jpg){kind=icon} | Patient History For Cystic Fibrosis |
| Test Mnemonic: CF REFLEX | |
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Methodology: Polymerase Chain Reaction/Oligonucleotide Ligation/Scanning/Sequencing
Performed: Refer to individual components 0056040 and 0051110 Reported: Refer to individual components 0056040 and 0051110 |
| 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: Classic CF Characteristics: Chronic sino-pulmonary disease, gastrointestinal malabsorption/pancreatic insufficiency, and obstructive azoospermia. Atypical CF Characteristics: Mono-symptomatic disease such as chronic pancreatitis, bilateral absence of the vas deferens, nasal polyps, or bronchiectasis. Incidence: 1:3000 Caucasians or Ashkenazi Jewish, 1:8000 Hispanics, 1:15,000 African Americans, 1:32,000 Asians. Inheritance: Autosomal recessive. Cause of Classic CF: Two cystic fibrosis transmembrane conductance regulator (CFTR) mutations. Cause of Atypical CF: Often one severe CFTR mutation and one mild CFTR mutation or variant. 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: 98% 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. Analytical Sensitivity and Specificity: 99% Limitations: CFTR promoter mutations and large gene deletions/duplications 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. |
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The CF Mutation Panel tests for the 32 most common CF mutations. If two mutations are not found, then the sample is reflexed to CFTR Full Gene Sequencing (0051110). IVS-8 testing is performed as part of Cystic Fibrosis, Full Gene Sequencing (0051110). |
| CPT Code(s): | |
| 83890 Isolation; 83900 Amplification; 83901 x31 Multiplex amplification; 83914 x33 Mutation identification; 83909 Capillary electrophoresis; 83912 Interpretation and report. If reflexed, add 83891 Isolation; 83898 x30 Amplification; 83909 Capillary electrophoresis; 83904 x30 Sequencing; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders. |