Diagnostic genetic testing

Testing for genes known to be associated with several congenital cranial dysinnervation disorders (CCDDs) is now available through multiple commercial or fee for service laboratories. One option for learning about such laboratories is the Genetic Testing Registry resource sponsored by the National Institutes of Health. The Engle Lab is an academic research laboratory which is not certified to report out such individual level genetic testing results. However, if it is determined that the research lab has identified variants of significance in study samples from you/your family, these specific results need to be confirmed in an independent, authorized laboratory prior to disclosure and use for medical management. The Engle Lab genetic counselor can help you/your family identify resources for pursuing testing of CCDD genes and/or guide confirmation of research results. Such testing typically requires the assistance and cooperation of a medical provider currently involved in your/your family’s care and familiar with genetic testing, insurance pre-authorization, and a sample sent directly to the diagnostic facility.

To learn more about diagnostic testing options or research enrollment for the disorders identified by the Engle Lab, please contact us at 617-919-2168 or englegc.research@childrens.harvard.edu.