Prevalence of genetic testing in CHARGE syndrome

Timothy S. Hartshorne, Kasee K. Stratton, Conny M.A. Van Ravenswaaij-Arts

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


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.

Original languageEnglish
Pages (from-to)49-57
Number of pages9
JournalJournal of Genetic Counseling
Issue number1
StatePublished - Feb 2011


  • CHARGE syndrome
  • CHD7
  • Clinical diagnosis
  • Genetic counseling
  • Genetic testing


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