False-positive results of genetic testing in cystic fibrosis.
case_report · Level V
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Abstract
We describe a patient in whom newborn immunoreactive trypsin screening and mutation analysis suggested a diagnosis of cystic fibrosis; however, the clinical course and sweat test results were not consistent with the diagnosis. Direct sequencing of the patient's genomic DNA showed compound heterozygosity for delta F508 and F508C, a polymorphism not associated with clinical disease.
Medical subject headings
- Cystic Fibrosis