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False-positive results of genetic testing in cystic fibrosis

Authors
Journal
The Journal of Pediatrics
0022-3476
Publisher
Elsevier
Publication Date
Volume
130
Issue
4
Identifiers
DOI: 10.1016/s0022-3476(97)70255-5
Disciplines
  • Biology
  • Medicine

Abstract

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. (J Pediatr 1997;130:658-60)

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