title: Evaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity, specificity, and costs.
abstract: We report a comparative evaluation of three different laboratory methods for screening large numbers of mouthwash DNA samples for common cystic fibrosis mutations. Sensitivity, specificity, and costs of ARMS (allele refractory mutation detection system), dot blotting, and a deletion/digest/PAGE method (multiplex PCR of exons 10 and 11, digest with HincII followed by polyacrylamide gel electrophoresis (PAGE)) were assessed. ARMS was the most reliable and sensitive method and so was considered more suitable than the cheaper deletion/digest/PAGE. As well as being less reliable than ARMS, the dot blotting method assessed was considerably more costly. ARMS was the best laboratory method for CF screening tested.
authors.affiliation: University of Aberdeen Department of Obstetrics and Gynaecology, UK.
authors.forename: Z H
authors.initials: ZH
authors.lastname: Miedzybrodzka
authors.forename: Z
authors.initials: Z
authors.lastname: Yin
authors.forename: K F
authors.initials: KF
authors.lastname: Kelly
authors.forename: N E
authors.initials: NE
authors.lastname: Haites
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D005820:Genetic Testing / Q000191:economics / Q000379:methods*; D006801:Humans; D015151:Immunoblotting; D008565:Membrane Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction; D012680:Sensitivity and Specificity
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator