A North Carolina newborn screening pilot for mucopolysaccharidosis II: Evaluating endogenous nonreducing end glycosaminoglycan analysis and IDS sequencing as higher-tier testing options

Mucopolysaccharidosis II (MPS II, OMIM 309900) is a lysosomal disorder recommended for newborn screening (NBS) in the United States. This study evaluated outcomes of high-throughput NBS for MPS II and use of 2 reflex testing methods to improve sensitivity and specificity.