Standard Article

Genetic Screening and Testing

  1. Peter T Rowley1,
  2. Devereux N Saller2,
  3. Robert E Shapiro3

Published Online: 3 MAY 2005

DOI: 10.1038/npg.els.0003848



How to Cite

Rowley, P. T., Saller, D. N. and Shapiro, R. E. 2005. Genetic Screening and Testing. eLS. .

Author Information

  1. 1

    University of Rochester, Rochester, New York, USA

  2. 2

    University of Virginia, Charlottesville, Virginia, USA

  3. 3

    West Virginia University, Morgantown, West Virginia, USA

Publication History

  1. Published Online: 3 MAY 2005


Genetic screening is the systematic search in a population for individuals with a particular genetic disease or genotypes. The usual purpose is to detect persons who themselves are at risk or whose offspring are at risk for a genetic disease or a genetically determined susceptibility to an environmental agent. Genetic testing is performed to determine the genotype of an individual suspected of having a mutation because of suggestive clinical features or a genetic relationship to a person known to have the genetic abnormality in question.


  • prenatal diagnosis;
  • newborn screening;
  • carrier screening