ARUP's Laboratory Test Directory
| 0056003: Cystic Fibrosis (CFTR) 5T Mutation |
| Test Mnemonic: IVS-8 | |
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Methodology: Polymerase Chain Reaction/Fragment Analysis
Performed: Sun-Sat Reported: 3-7 days |
| Specimen Required: | |
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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.
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| Interpretive Data: | |
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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. |