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Carrier screening: a tutorial

Part 1. Genetics

1.6. Genetic Medicine and Clinical Genetics

Basic Techniques and Approaches

  1. Wayne W. Grody1,
  2. Jean A. Amos2

Published Online: 15 APR 2005

DOI: 10.1002/047001153X.g106407

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Grody, W. W. and Amos, J. A. 2005. Carrier screening: a tutorial. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.6:83.

Author Information

  1. 1

    David Geffen School of Medicine at UCLA, Los Angeles, CA, USA

  2. 2

    Molecular Genetics Specialty Laboratories, Valencia, CA, USA

Publication History

  1. Published Online: 15 APR 2005

Abstract

Population carrier screening for cystic fibrosis mutations was launched in the United States in 2001. Despite three years of accrued experience on large numbers of tested couples, many aspects of the testing protocol and the genetic counseling remain problematic, owing to the complexity of the causative CFTR gene, the large number of possible mutations within it, the uncertain genotype–phenotype correlation, and the varying residual risks of a negative test in those with or without a positive family history of the disorder. The clinical vignette presented in this tutorial illustrates many of these issues and the appropriate approach for addressing them.

Keywords:

  • cystic fibrosis;
  • genetic screening;
  • carrier screening;
  • genetic counseling;
  • mutation analysis