Cystic Fibrosis (CFTR) 5T Mutation
0056003
Ordering Recommendation
For patients with a previously identified R117H mutation or those with atypical CF symptoms who only have 1 mutation detected on the CF panel.
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.





See Compliance Statement C: www.aruplab.com/CS
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.
 
Note
 
CPT Code(s)
81224
Components
Component Test Code*Component Chart NameLOINC
0056003Cystic Fibrosis (CFTR) 5T Mutation43370-6
2001360Cystic Fibrosis (CFTR) - IVS-8 Specimen 
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Aliases
  • CFTR 5T