False-positive results of genetic testing in cystic fibrosis

W. S. Warren, Ada Hamosh, M. Egan, Beryl J Rosenstein

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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 ΔF508 and F508C, a polymorphism not associated with clinical disease.

Original languageEnglish (US)
Pages (from-to)658-660
Number of pages3
JournalJournal of Pediatrics
Volume130
Issue number4
DOIs
Publication statusPublished - 1997
Externally publishedYes

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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