title: Cystic fibrosis mutation testing in Italy.
abstract: In Italy, Cystic fibrosis (CF) mutation frequency differences have been observed in different regions. In the northeastern Veneto and Trentino Alto Adige regions, a complete cystic fibrosis transmembrane conductance regulator (CFTR) gene screening in CF patients detected through a newborn screening program has identified about 90% of the mutations. In these two regions, the current detection rate using a CF screening panel containing the 16 most common mutations is 86.6%. CF mutations in some other Italian regions have not been so thoroughly analysed. Available data indicate that a more general national screening panel comprising 31 mutations may detect about 75% of all CF mutations in Italy.
authors.affiliation: Section of Biology and Genetics, Department of Mother and Child, Biology and Genetics, University of Verona, Strada le Grazie, 8, I-37134 Verona, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Bombieri
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D007558:Italy; D009154:Mutation; D015997:Neonatal Screening; D018570:Risk Assessment