ARUP's Laboratory Test Directory
| 0056006: Cystic Fibrosis Cis-Trans |
| Patient History For Cystic Fibrosis |   |   |
| Test Mnemonic: CFCIS-TRAN | |
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#ExistMethodology>
Methodology: Polymerase Chain Reaction/Oligonucleotide Ligation
*ExistMethodology> #ExistPerformed> Performed: Mon, Wed, Fri *ExistPerformed> #ExistReported> Reported: 8-12 days *ExistReported> |
| Specimen Required: | |
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#ExistCollect>
Collect: One 3 mL lavender (EDTA), pink (K2EDTA) or yellow (ACD solution A or B).
*ExistCollect> #ExistTransport> Transport: 3 mL whole blood at 2-8°C. (Min: 1 mL) *ExistTransport> #ExistPedCollectTransport> Pediatric Collection/Transport: 1 mL whole blood at 2-8°C. *ExistPedCollectTransport> #ExistStability> Stability: Ambient: 3 days; Refrigerated: 5 days; Frozen: Unacceptable *ExistStability> |
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| Reference Interval: |
| #ExistRefRange> By report *ExistRefRange> |
| Interpretive Data: | |
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#ExistInterpData>
The sample is tested to determine cis-trans status of R117H/5T and the IVS-8 poly 5T in the CF gene by allele-specific long range polymerase chain reaction (PCR) and oliogonucleotide ligation (OLA). Sensitivity and specificity for detection of these mutations are 99%.
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. *ExistInterpData> |
| Note: | |
| It is important to note on the test form whether the test is to rule out affected or carrier status. Risk assessment is dependent on this information. |
| CPT Code(s): | |
| 83890 Isolation; 83900 Amplification; 83901 Multiplex amplification; 83914 x4 Mutation identification; 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. |