ARUP's Laboratory Test Directory

0056003: Cystic Fibrosis (CFTR) 5T Mutation

Test Mnemonic: IVS-8
Methodology: Polymerase Chain Reaction/Fragment Analysis

Performed: Sun-Sat

Reported: 3-7 days

Specimen Required:  
Collect: Please contact ARUP's genetic counselor at (800) 242-2787 extension 2946 prior to test submission.  An HHT test request form must be submitted with sample.  HHT specific forms are available upon request. 

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 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



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.



CPT Code(s):
83890 Isolation; 83900 Multiplex Amplification; 83901 x31 Additional Amplification; 83914 x2 OLA;  83909 Capillary electrophoresis; 83912 Interpretation and report.

 

 

 
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