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| 41970:CYSTIC FIBROSIS, MUTATION PANEL | |||||||||
| Alias Names: | CF | ||||||||
| Methodology: | Multiplex Polymerase Chain Reaction with Microfluidic Probe Hybridization (Invader) | ||||||||
| Edit Date: | 6/11/2010 | ||||||||
| Performed: | Monday, Thursday | ||||||||
| Released: | 2-5 days | ||||||||
| CPT Code: | 83892-8A x46 / 83896-8A x115 / 83900-8A / 83901-8A x17 / 83903-8A x23 / 83908-8A x23 / 83912-8A | ||||||||
| Specimen Collection Details | |||||||||
| Collection: | One 4 mL lavender top tube (EDTA). Also acceptable: One 6 mL yellow top tube (ACD). Refrigerate. | ||||||||
| Handling: | Submit as whole blood at 2-8° C. If other testing is ordered, send a separate specimen for this test. Complete Cystic Fibrosis information is required on the obstetrics requisition. | ||||||||
| Stability: | 24 hours ambient or 5 days refrigerated. Unstable frozen. | ||||||||
| Standard Volume: | 4 mL whole blood. | ||||||||
| Minimum Volume: | 1 mL whole blood. | ||||||||
| Transport: | Refrigerated. | ||||||||
| Comments: | The cystic fibrosis carrier screen includes the 23 mutations recommended by the American College of Medical Genetics for population carrier screening. Mutations include: F508del, I507del, G542X, G551D, W1282X, N1303K, R553X, 621+1G>T, R117H, 1717-1G>A, 2184delA, 3849+10kbC>T, 2789+5G>A, 3659delC, 3120+1G>A, A455E, R560T, R1162X, G85E, R334W, R347P, 711+1G>T, and 1898+1G>A.
Specimen is tested by using multiplex polymerase chain reactions with Microfluidic Probe Hybridization Detection (Invader Technology). It has been approved by the Food and Drug Administration (FDA). This test is used for clinical purposes. The laboratory is regulated by the Clinical Laboratory Improvement Amendments (CLIA) of 1988. |
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| Rejection Criteria: | Serum; frozen or clotted whole blood; severe 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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