Evaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity, specificity, and costs.
AUTOR(ES)
Miedzybrodzka, Z H
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1049977Documentos Relacionados
- Direct marketing of cystic fibrosis carrier screening: commercial push or population need?
- Direct marketing of cystic fibrosis carrier screening: commercial push or population need?
- Specificity, sensitivity, and diagnostic value of the TPHA test.
- Sensitivity, specificity, and predictive values of the Limulus lysate assay for detection of exclusion of gonococcal cervicitis.
- Cystic Fibrosis and DNA Tests: Implications of Carrier Screening