ARUP's Laboratory Test Directory

0056006: Cystic Fibrosis Cis-Trans

[ image for: Patient History For Cystic Fibrosis]
Patient History For Cystic Fibrosis
  

Test Mnemonic: CFCIS-TRAN
Methodology: Polymerase Chain Reaction/Oligonucleotide Ligation

Performed: Mon, Wed, Fri

Reported: 8-12 days

Specimen Required:  
Collect: One 3 mL lavender (EDTA), pink (K2EDTA) or yellow (ACD solution A or B).

Transport: 3 mL whole blood at 2-8°C. (Min: 1 mL)

Pediatric Collection/Transport: 1 mL whole blood at 2-8°C.

Stability: Ambient: 3 days; Refrigerated: 5 days; Frozen: Unacceptable

Reference Interval:
By report

Interpretive Data:
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.



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.

 

 

 
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