ARUP's Laboratory Test Directory
| 0050756: Cystic Fibrosis Mutation Panel, Atypical |
![[ image for: Patient History For Cystic Fibrosis]](icon_18.jpg){kind=icon} | Patient History For Cystic Fibrosis |
| Test Mnemonic: CFATYPICAL | |
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Methodology: Polymerase Chain Reaction/Oligonucleotide Ligation
Performed: Sun-Sat Reported: 8-10 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: This sample is negative for a CFTR mutation and the 5T variant. This decreases, but does not eliminate, the chance that this individual is affected with an atypical form of CF. |
| Interpretive Data: | |
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Test Information: Individuals with atypical CF may have only a single symptom of classic CF such as a congenital bilateral absence of the vas deferens (CBAVD) or pancreatitis. Yet approximately 75% of men with CBAVD are believed to be at least carriers of CF (20% will have one identifiable mutation, 20% will have two identifiable mutations and 35% will have one severe mutation and the IVS-8 5T variant on the other allele). As many as 30% of individuals with chronic idiopathic pancreatitis have documented CFTR mutations including the IVS-5T variant. The reproductive partner of any individual suspected of having atypical CF should undergo CF mutation analysis. This is true whether or not the individual with possible atypical CF has a detectable mutation. A rare mutation may be present that is not detected by this assay. Inheritance: autosomal recessive. Incidence: 1:3,000 Caucasian and Ashkenazi Jewish births; lower in other ethnicities. 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: F508del, I507del, G542X, G551D, W1282X, N1303K, R553X, 621+1GT, R117H, 1717-1GA, A455E, R560T, R1162X, G85E, R334W, R347P, 711+1GT, 1898+1GA, 2184delA, 1078delT, 3849+10kbCT, 2789+5GA, 3659delC, I148T, 3120+1GA, R347H, V520F, S549N, S549R, 3905insT, 3876delA, 394delTT. The IVS-8/poly T variant is also tested. For samples positive for I148T, 3199del6 is analyzed. Methods: PCR, oligonucleotide ligation assay (OLA) and fluorescent hybridization probes. Limitations: mutations, other than the 32 examined, will not be detected; furthermore mutations within the primer/probe regions could affect this assay. Sensitivity: African American-65%; Ashkenazi Jewish-94%; Caucasian-89%; Hispanic-73%. Informed consent: recommended; 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: | |
| For a complete description of the Reference Interval, 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 x31 Multiplex amplification; 83909 Separation and identification; 83914 x33 Mutation identification by OLA; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders. |