Genetic testing in CHARGE syndrome

Activity: Talk or presentationProfessional

Conny Ravenswaaij-Arts, van - Speaker

Jorieke Kammen-Bergman, van - Speaker

The gene involved in CHARGE syndrome was identified in 2004. Mutations in this gene, the CHD7 gene, are found in the majority of CHARGE syndrome patients. Different techniques are used to analyze this large gene. Sequence analysis is the method of first choice and will identify mutations in the CHD7 gene. Two other techniques, MLPA and array CGH, can be used to find deletions or duplications of the CHD7 gene.

Event (Conference)

Title9th International CHARGE conference
CountryUnited States
Degree of recognitionInternational event

ID: 126150087