:: Meet the Pediatric Genetics and Metabolism Clinicians
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:: Newborn Screening


The department of Pediatric Genetics and Metabolism is a specialty service in the UNC Department of Pediatrics and offers diagnosis management and genetic counseling for children and their families with disorders that are known or suspected to be inherited (passed down from a family member), resulting from a change in a person's genetic code. Such disorders include birth defects, chromosomal abnormalities, unexplained developmental delay, hearing loss, neuromuscular disorders, intrauterine teratogen exposures, and inborn errors of metabolism (the process of how substances in cells or tissues are broken down for energy or are synthesized).

To schedule an appointment or if you have any questions, please call 919-966-4202. 

Newborn Screening Information
Newborn screening in the United States is a public health program aimed at the early identification of conditions for which early and timely interventions can lead to the elimination or reduction of symptoms (AAP Newborn Screening Taskforce, 2000).  North Carolina screens for many different conditions as part of the newborn screen, many of which are biochemical genetic conditions.  If your child has a positive newborn screen for a biochemical genetic condition, it is likely that our clinic will be involved in helping coordinate additional follow up counseling and testing for that condition.  We will work together to confirm a diagnosis, provide appropriate treatment and educational information for your family.  Should you have any questions about this information, or about the newborn screen, please call us at 919-966-4202. http://slph.state.nc.us/Newborn/default.asp