title: False-positive results of genetic testing in cystic fibrosis.
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.
authors.affiliation: Department of Pediatrics, Pennsylvania State University School of Medicine, Hershey, USA.
authors.forename: W S
authors.initials: WS
authors.lastname: Warren
authors.forename: A
authors.initials: A
authors.lastname: Hamosh
authors.forename: M
authors.initials: M
authors.lastname: Egan
authors.forename: B J
authors.initials: BJ
authors.lastname: Rosenstein
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004252:DNA Mutational Analysis; D005189:False Positive Reactions; D005821:Genetic Techniques; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014357:Trypsin / Q000032:analysis
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014357:Trypsin