Professor University of Washington Seattle, Washington
Biochemical newborn screening and not DNA sequencing will be the major method for NBS for the foreseeable future. Liquid chromatography/tandem mass spectrometry is the only described method for comprehensive NBS of a vast area of rare diseases. We will show recent examples of the current state of NBS for lysosomal storage diseases. We will also show our recent success in consolidating numerous NBS assays into a single platform in an effort to keep up with the ever-increasing diseases for which early treatment options are becoming available.
Participants will lean the power of biochemical-based newborn screening versus DNA sequencing.
Participants will learn the power of tandem mass spectrometry for a comprehensive biochemical platform to consolidate newborn screening biomarker andmenymativc activity assays into a single analytical platform.
Participants will learn about the challenges of achieving precision for newborn screening of diseases (minimizing false positives)