Consensus for SMN2 genetic analysis in SMA patients at 270th ENMC International Workshop
At the 270th ENMC International Workshop, which took place from 10 – 12th of March 2023 in the Netherlands, participants agreed to determine a standard operating procedure for SMN2 gene copy number determination and a specific workflow for diagnosis and management of SMA patients identified in neonatal screening as well as to engage collaborative efforts for the creation of a European network to address discrepancies among expert centres.