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| Interpretive Data: |
#ExistInterpData>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
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| CPT Code(s): |
81224
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