What is the role of genetic testing in the workup of epidermolytic ichthyosis (EI)?

Updated: Aug 23, 2019
  • Author: Brittany G Craiglow, MD; Chief Editor: Dirk M Elston, MD  more...
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Answer

Genetic studies can be performed on buccal swabs or blood. Once a mutation is identified in an affected individual, mutation-specific testing for relatives and prenatal diagnosis is available.


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