Cystic Fibrosis Cis-Trans(CFTR) R117H and 5T Mutations
0056006
 
Ordering Recommendation
Determine phase of the CFTR R117H mutation and 5T variant.
Mnemonic
CFCIS-TRAN
Methodology
Polymerase Chain Reaction/Oligonucleotide Ligation
Performed
Mon, Wed, Fri
Reported
8-12 days
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
 
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.  
Unacceptable Conditions
 
Remarks
 
Stability
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
Components
Component Test Code*Component Chart Name
0051151Cystic Fibrosis Symptom
0056006Cystic Fibrosis (CFTR) R117H/5T Interp
2001363Cystic Fibrosis(CFTR) R117H and 5T Spec
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, contact interface support at interface.support@aruplab.com.
Cross References