| 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): |
83891 Isolation; 83900 Multiplex amplification; 83901 x31 Additional amplification; 83914 x2 OLA; 83909 Capillary electrophoresis; 83912 Interpretation and report
|
|