Cystic Fibrosis Cis-Trans (CFTR) R117H and 5T Mutations
Ordering Recommendation
Order only if individual is positive for both the R117H mutation and 5T variant.
Determines if R117H and 5T are on the same chromosome.
Polymerase Chain Reaction/Oligonucleotide Ligation
Mon, Wed, Fri
8-12 days
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Unacceptable Conditions
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

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
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)
Component Test Code*Component Chart NameLOINC
0056006Cystic Fibrosis (CFTR) Cis-Trans Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • CFTR R117H and 5T mutations