he primary purpose of Newborn Screening (NBS) Unit in the State Laboratory of Public Health (SLPH) is to provide timely and accurate testing to detect potentially fatal or disabling conditions in newborns. Identifying infants with these conditions early in life provides a window of opportunity for treatment, often before the infant displays any signs or symptoms of the disease or condition.
This Newborn Screening MS/MS Chemistry II position is assigned to the Tandem Mass Spectrometry (MS/MS) group within the Newborn Screening Unit of the State Lab of Public Health. The position is responsible for performing dried blood spot (DBS) screening on newborns in the state of North Carolina for Fatty Acid Oxidation Disorders, Organic Acid Disorders, and Amino Acid Disorders. The primary function of the MS/MS group is to perform accurate and timely screening analyses on clinical specimens collected from newborns using analytical and biochemical procedures and electrospray tandem mass spectrometry quadrupole technology. Analysis and intricate interpretation of data derived from clinical specimens by qualitative and quantitative methods identifies infants with metabolic disorders that if delayed, undetected or untreated, cause irreversible mental and physical incapacities or even death.
Additionally, identified children and adults are monitored for their responses to dietary and medical treatment. The service is provided to physicians, birthing hospitals, local health departments and other health care providers. The NBS Unit also collaborates with universities and other institutions on various data mining and method development projects and pilot studies to enhance the NBS program and the NCSLPH testing menu to accommodate for new disorders and/or methodologies as they become available.