ARUP's Laboratory Test Directory

Cystic Fibrosis Cis-Trans(CFTR) R117H and 5T Mutations : 0056006
[ image for: Patient History For Cystic Fibrosis (CF) Testing]
Patient History For Cystic Fibrosis (CF) Testing
[ image for: Additional Technical Information]
Additional Technical Information


Mnemonic: CFCIS-TRAN

Ordering Recommendation: Determine phase of the CFTR R117H mutation and 5T variant.
Methodology: Polymerase Chain Reaction/Oligonucleotide Ligation
Performed: Mon, Wed, Fri
Reported: 8-12 days
Specimen Required: Collect: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation: Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature: Refrigerated.

Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 5 days; Frozen: Unacceptable
Reference Interval:
By report
Interpretive Data: The sample is tested to determine the cis-trans status of p.Arg117His (c.350G>A) and the IVS-8 5T variant (c.1210-12T[5_9]) in the CFTR gene by allele-specific long range polymerase chain reaction (PCR) and oligonucleotide ligation assay (OLA).
Sensitivity and specificity for detection of these mutations are 99 percent. Counseling and informed consent are recommended for genetic testing. Consent 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.

See Compliance Statement C: www.aruplab.com/CS
Note: Must note on the patient history form whether the test is to rule out affected status or carrier status. Risk assessment is dependent on this information.
CPT Code(s): 81479