Your health can’t wait. Learn how we’re making our facilities safer and schedule your care now.
Children's Hospital is part of the UPMC family.
Be safe anytime, anywhere.
To find a pediatrician or pediatric specialist, please call 412-692-7337 or search our directory.
A resource for our network of referring physicians.
For more information about research, please call our main office at 412-692-6438.
Ranked #9 Nationally by U.S. News & World Report.
This study is being conducted to help researchers better understand the molecular genetic basis for unknown inherited conditions. While many genetic disorders are known, in some individuals with certain conditions where a precise diagnosis is undetermined, clinicians may suspect a genetic disorder is the cause. This study will enable researchers to set test parameters to best sequence all the important DNA from individuals with similar conditions.
This study is recruiting patients who have been identified by a genetic doctor as potentially having a genetic disease.
Males and Females: All ages
For DNA sequencing, blood samples will be taken from participants and healthy sibilings and parents. Urine and/or saliva samples may also be taken for future functional studies. Researchers will review participants’ health and family medical history, as well as results from other physical exams, lab reports, and tests provided by medical facilities and physicians. In a follow up visit, participants will be informed of what was learned through DNA analysis.
Visits: None beyond normal clinical care
Duration: Not applicable
Medical Genetics Division, Department of Pediatrics, Children’s Hospital of Pittsburgh of UPMC
Medical Genetics Research
Gerard Vockley, MD, PhD
For more information about the study or enrollment, please contact:
Jennifer Baker, MA
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
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
With myCHP, you can request appointments, review test results, and more.
For questions about a hospital bill call:
To pay your bill online, please visit UPMC's online bill payment system.
Interested in giving to Children's Hospital? Support the hospital by making a donation online, joining our Heroes in Healing monthly donor program, or visiting our site to learn about the other ways you can give back.