Original Research

Journal of Genetic Counseling

, Volume 20, Issue 1, pp 49-57

First online:

Prevalence of Genetic Testing in CHARGE Syndrome

  • Timothy S. HartshorneAffiliated withCentral Michigan UniversityPsychology Department, Central Michigan University Email author 
  • , Kasee K. StrattonAffiliated withCentral Michigan University
  • , Conny M. A. van Ravenswaaij-ArtsAffiliated withDepartment of Genetics, University of Groningen

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Parents of 145 individuals with a clinical diagnosis of CHARGE syndrome, ages 2 to 39 years, indicated in a survey whether their child had been tested for the CHD7 mutation, which is the only gene presently known to be associated with CHARGE. More than two thirds (68%) of the affected individuals had never been gene tested. Of the 46 who had been tested, 74% tested positive for the mutation. Half (50%) of those who underwent testing did so as a part of a conference blood draw by Baylor College of Medicine in 1999. Children who were tested were significantly younger than those who had not been tested. A second group of 43 parents were informally surveyed at a conference in 2009. More than half of their children had been tested, and nearly 70% were positive for the mutation. Reasons given by these parents for testing included confirming the diagnosis and assisting research. Reasons given for not testing included lack of opportunity, no known benefit, and lack of insurance coverage.


CHARGE syndrome Genetic testing CHD7 Clinical diagnosis Genetic counseling