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Keywords:

  • ectodermal dysplasia;
  • genetic testing;
  • clinical laboratory;
  • research laboratory;
  • CLIA;
  • Clinical Laboratory Improvement Amendment;
  • clinical features;
  • inheritance;
  • methodology;
  • sensitivity;
  • gene sequencing;
  • quantitative PCR;
  • mutation;
  • deletion;
  • genetic counseling;
  • prenatal diagnosis

Abstract

“Ectodermal Dysplasia syndromes” comprise a diverse group of heritable conditions characterized by congenital anomalies of one or more ectodermal structures and their appendages: hair, teeth, nails, and sweat glands. Genetic testing is available for many types of ectodermal dysplasia (ED) through clinical and/or research laboratories. We address the distinctions between genetic testing as performed on a clinical versus research basis, and summarize the clinical aspects, testing methodology, and sensitivity for those ED syndromes for which testing is available in a clinical laboratory. Lastly, we leave the laboratory for the clinical setting to discuss the utility of genetic testing for patients and their families, and summarize the practical issues involved in ordering a genetic test. © 2009 Wiley-Liss, Inc.