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| 93200:CYSTIC FIBROSIS (CF) 32 MUTATION PANEL | |||||||||
| Alias Names: | CFTR / 5T | ||||||||
| Methodology: | Polymerase Chain Reaction (PCR) / Oligonucleotide Ligation / Fragment Analysis | ||||||||
| Edit Date: | 6/11/2010 | ||||||||
| Performed: | Daily | ||||||||
| Released: | 3-7 days after setup at PeaceHealth Laboratories’ reference lab | ||||||||
| CPT Code: | 83891-908A / 83900-908A / 83901-908A x30 / 83909-908A / 83912-908A / 83914-908A x32 | ||||||||
| Specimen Collection Details | |||||||||
| Collection: | One 4 mL lavender top tube (EDTA). Also acceptable: One 6 mL pink top tube (K2EDTA), or one 6 mL or 8.5 mL yellow top tube (ACD Solution A or B). Refrigerate. | ||||||||
| Handling: | Keep as whole blood. Do not centrifuge. Send with patient history form, available from Client Services. It is critical to note on the form 1) if patient has CF symptoms, 2) ethnicity, and 3) family history of CF. Risk assessment is dependent on this information. | ||||||||
| Stability: | 72 hours ambient or 7 days refrigerated. Unstable frozen. | ||||||||
| Standard Volume: | 3 mL whole blood | ||||||||
| Minimum Volume: | 1 mL whole blood | ||||||||
| Transport: | Refrigerated. | ||||||||
| Comments: | Background information for Cystic Fibrosis, Nonclassic (CFTR) 32 Mutations and 5T: Characteristics of Nonclassic Cystic Fibrosis (CF): Findings are often limited to a single organ system such as isolated pancreatitis, bilateral absence of the vas deferens, nasal polyposis, or bronchiectasis. Incidence of Classis CF: 1:3,000 Caucasian or Ashkenazi Jewish births, 1:8000 Hispanics, 1:15,000 African Americans, and 1:32,000 Asians. Incidence of Nonclassic CF is unknown. Inheritance: Autosomal recessive. Mutations Tested: G85E, R117H, R334W, R347P, R347H, 394delTT, A455E, I507del, F508del, V520F, G542X, S549N, S549R, G551D, R533X, R560T, 621+1G>T, 711+1G>T, 1078delT, R1162X, W1282X, N1303K, 1717-1G>A, 1898+1G>A, 2183AA>G, 2184delA, 2789+5G>A, 3120+1G>A, 3659delC, 3849+10kbC>T, 3876delA, 3905insT. The IVS-8/polyT variant is also analyzed. 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%. Analytical Sensitivity and Specificity: 99%. Limitations: Rare diagnostic errors can occur due to primer or probe site mutations. Only the 32 CFTR mutations listed above, and the IVS-8 poly T site, will be interrogated. Note: IVS-8 is automatically analyzed and reported. |
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| Rejection Criteria: | Serum; frozen or clotted whole blood; hemolysis.
This test may require insurance company prior authorization before ordering.
Please check the prior authorization list . Failure to gain preauthorization may result in denial of coverage. |
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