Evaluation of laboratory methods for cystic fibrosis carrier screening: Reliability, sensitivity, specificity, and costs

Zosia H. Miedzybrodzka*, Zhikang Yin, Kevin F. Kelly, Neva E. Haites

*Corresponding author for this work

Research output: Contribution to journalArticle

13 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)545-550
Number of pages6
JournalJournal of Medical Genetics
Volume31
Issue number7
Publication statusPublished - 1 Jul 1994

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