ARUP's Laboratory Test Directory
| 0056040: Cystic Fibrosis (CFTR) 32 Mutations |
![[ image for: Patient History For Cystic Fibrosis]](icon_18.jpg){kind=icon} | Patient History For Cystic Fibrosis |
| Test Mnemonic: CF MUT | |
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Methodology: Polymerase Chain Reaction/Oligonucleotide Ligation
Performed: Sun-Sat Reported: 3-7 days |
| Specimen Required: | |
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Collect: One 3 mL lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). Also acceptable: 2 buccal swabs.
Transport: 3 mL whole blood or 2 buccal swabs at 2-8°C. (Min: 1 mL) Pediatric Collection/Transport: 1 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: |
| Negative: The sample is negative for the mutations screened, including the 25 CF mutations recommended by the American College of Medical Genetics. |
| Interpretive Data: | |
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Test Information: Incidence: 1:3,000 Caucasian and Ashkenazi Jewish births; lower in other ethnicities. Inheritance: Autosomal recessive. Characteristics: meconium ileus, pancreatic insufficiency, chronic sino-pulmonary disease, gastrointestinal/nutritional abnormalities, salt-loss syndromes and male infertility. Causation: cystic fibrosis transmembrane regulator (CFTR) gene mutations. 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. For samples positive for R117H or I148T, the IVS-8/poly T variant or 3199del6 mutation are analyzed respectively. Methods: PCR, oligonucleotide ligation assay (OLA), fluorescent hybridization probes, and capillary electrophoresis. Limitations: Only the 32 mutations tested will be detected; furthermore mutations within the primer/probe regions could affect this assay. Sensitivity: African American-69%; Ashkenazi Jewish-97%; Caucasian-89%; Hispanic-73%. Hot Line Note: Please remove concent form statement. 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: | |
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It is critical to note on the test form (1) whether the patient has CF symptoms, (2) ethnicity, and (3) family history of CF. Risk assessment is dependent on this information. For additional information about this test, please refer to ARUP's Guide to Clinical Laboratory Testing, which can be found on our Web site at www.aruplab.com. |
| CPT Code(s): | |
| 83890 Isolation; 83900 Amplification; 83901 x30 Multiplex amplification; 83914 x32 Mutation identification by OLA; 83909 Separation and identification; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders. |