This poster was presented at the Muscular Dystrophy Association 2019 Clinical and Scientific Conference.
Authors: C. Graham, MT, V. Amin, PhD, T. Sokolsky, PhD, R. Singh, PhD, E.W. Naylor, PhD, MPH, A. Bhattacharjee, PhD, Laboratory Services Division, Baebies, Inc., Durham, NC; Z. Fan, MD, UNC-CH School of Medicine, Chapel Hill, NC; and E. Smith, MD, Duke University School of Medicine, Durham, NC.
The poster describes a creatine kinase (CK) assay paired with targeted next generation sequencing (tNGS) to screen newborns for Duchenne Muscular Dystrophy (DMD) and other congenital muscular dystrophies from dried blood spots. The test is currently part of the Eli supplemental newborn screening panel offered by Baebies Lab Services.