Discordant MPS1 Sequencing Results from Newborn Screening and Diagnostic Labs: Investigation and Resolution

Tuesday, December 15, 2020
Binod Kumar, PhD
University of Massachusetts Medical School

Commonwealth Medicine's newborn screening experts have developed an algorithm that can be used to tell when a newborn's genotype may need to be retested. Learn more about this formula, which can determine when alleleic dropout has occurred, and find out why this practice could be vital for newborn screening programs across the country in this presentation developed by Dr. Binod Kumar.