Abstract

Early Check is a research study offered to mothers or legal guardians whose infants have newborn screening (NBS) in North Carolina. The study is led by RTI International in collaboration with the North Carolina State Laboratory of Public Health (NCSLPH), Duke University, University of North Carolina at Chapel Hill, and Wake Forest University. Early Check provides screening for conditions that are not part of state NBS, using residual dried blood spot (DBS) specimens. The Early Check screening panel, which was developed to change over time, currently includes Fragile X syndrome and Duchenne muscular dystrophy (DMD) and related muscular dystrophies.

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