Cystic Fibrosis (CFTR) 5T Mutation
0056003
 
Ordering Recommendation
Determine the presence of the CFTR 5T variant.
Mnemonic
IVS-8
Methodology
Polymerase Chain Reaction/Fragment Analysis
Performed
Sun-Sat
Reported
3-7 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
Interpretive Data
Background Information for Cystic Fibrosis (CFTR) 5T Mutation
Characteristics:
The 5T mutation is a mild cystic fibrosis transmembrane regulator (CFTR) mutation resulting in improper mRNA splicing removing exon 9 from 90 percent of the CFTR protein. It is commonly observed in combination with a severe mutation on the other allele in individuals with a single CF symptom such as congenital bilateral absence of the vas deferens, bronchiectasis, or idiopathic pancreatitis.
Allele Frequency:
5 percent.
Penetrance:
Variable
Cause:
5T residues in the eighth CFTR intron instead of the more common seven.
Mutation tested:
5T mutation (c.1210-12T[5_9]) in CFTR.
Methodology:
Polymerase chain reaction, oligonucleotide ligation assay (OLA), fluorescent hybridization probes, and capillary electrophoresis.
Analytical Sensitivity and Specificity:
99 percent.
Limitations:
Mutations within the primer/probe regions could affect the analytical sensitivity of this assay. Diagnostic errors can occur due to rare sequence variations.



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
CPT Code(s)
81224
Components
Component Test Code*Component Chart Name
0056003Cystic Fibrosis (CFTR) 5T Mutation
2001360Cystic Fibrosis (CFTR) - IVS-8 Specimen
* 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