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The purpose of this study is to understand whether the use of whole genome sequencing (WGS) and targeted neonatal-specific gene analysis provide a faster genetic diagnosis for infants in the intensive care unit (ICU) population compared to standard-of-care testing. Researchers will also be examining whether early diagnosis through WGS can lead to better outcomes and reduced costs of medical care.
This study is enrolling infants in the intensive care unit at UPMC Children’s Hospital of Pittsburgh and UPMC Magee-Womens Hospital.
Boys and Girls: Ages newborn through 1 year corrected gestational age
Blood samples will be taken from participating infants and their biological parents for sequencing and analysis. Researchers will also review medical record information about the length of stay in the hospital, diagnosis, and outcomes, as well as and medical expense information for participants.
Visits: Not applicable
Duration: Not applicable
Richard King Mellon Foundation
Medical Genetics Research
Gerard Vockley, MD, PhD
For more information about the study or enrollment, please contact:
Mark Tumblin, Clinical Research Coordinator
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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