Presentation

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

Commonwealth Medicine is now ForHealth Consulting at UMass Chan Medical School. More information available here. This content has not been updated with the new name.

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.

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