The goal of this study is to gain a better understanding of the genetic cause of complex medical cases in children involving unexplained developmental delay or intellectual disability or birth defects.
Enrollment in the study involves evaluation in the Genome Sequencing clinic, and if the child qualifies for this study, the child's genome will be sequenced. A second appointment will be made to discuss the results.
Children from birth through 18 years old may qualify for this study.
For more information, contact Kelly Schoch at 919-681-2772.