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

J Med Genet. 1994 Jul;31(7):545-50. doi: 10.1136/jmg.31.7.545.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA Mutational Analysis*
  • Genetic Testing / economics
  • Genetic Testing / methods*
  • Humans
  • Immunoblotting
  • Membrane Proteins / genetics
  • Polymerase Chain Reaction
  • Sensitivity and Specificity

Substances

  • CFTR protein, human
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator