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Diseases

Genetic and Rare Diseases Information Center (GARD)

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CHARGE syndrome


Other Names for this Disease
  • CHARGE association
  • Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies
  • Hall-Hittner syndrome
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Tests & Diagnosis


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Is genetic testing available for CHARGE syndrome?

Genetic testing is available for CHARGE syndrome. The CHD7 gene is the only gene in which mutations are known to cause CHARGE syndrome. The CHD7 mutation detection rate when sequence analysis is performed is estimated to be 65%-70% for all typical and suspected cases combined.[1]

GeneTests lists the names of laboratories that are performing clinical genetic testing for CHARGE syndrome. To view the contact information for these laboratories, click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families. Therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 3/11/2013

References
  1. Seema R Lalani, Margaret A Hefner, John W Belmont, and Sandra LH Davenport. CHARGE syndrome. GeneReviews. February 2, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1117/. Accessed 3/8/2013.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.