How to cite this article: Bale SJ, Mitchell AG. 2009. Genetic testing in ectodermal dysplasia: Availability, clinical utility, and the nuts and bolts of ordering a genetic test. Am J Med Genet Part A 149A:2052–2056.
Genetic testing in ectodermal dysplasia: Availability, clinical utility, and the nuts and bolts of ordering a genetic test†
Article first published online: 13 AUG 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Special Issue: Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate Syndrome and Ectodermal Dysplasias
Volume 149A, Issue 9, pages 2052–2056, September 2009
How to Cite
Bale, S. J. and Mitchell, A. G. (2009), Genetic testing in ectodermal dysplasia: Availability, clinical utility, and the nuts and bolts of ordering a genetic test. Am. J. Med. Genet., 149A: 2052–2056. doi: 10.1002/ajmg.a.32870
- Issue published online: 20 AUG 2009
- Article first published online: 13 AUG 2009
- Manuscript Accepted: 19 MAR 2009
- Manuscript Received: 29 JAN 2009
- ectodermal dysplasia;
- genetic testing;
- clinical laboratory;
- research laboratory;
- Clinical Laboratory Improvement Amendment;
- clinical features;
- gene sequencing;
- quantitative PCR;
- genetic counseling;
- prenatal diagnosis
“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.