Key Diagnostic Considerations in Neurofibromatosis type 1

This Alexion-sponsored educational podcast is intended for US healthcare professionals only. 

Neurofibromatosis type 1 (NF1) is a disorder of heterogeneity, and signs and symptoms can vary widely from patient to patient. International consensus recommendations, updated in 2021, incorporate a revised diagnostic criteria for NF1 with new clinical features and molecular diagnosis. 

This podcast, one of the series, provides insights into the key diagnostic considerations of NF1. Join Drs Bruce Korf and Carlos Guillermo Romo as they talk about the practical aspects and challenges of the diagnostic process in NF1. Our experts outline the 2021 diagnostic criteria and provide an overview of the symptoms associated with NF1, discussing diagnostic genetic testing, differential diagnosis, and primary care referrals to an NF1 specialist. Additionally, the podcast dives into challenging clinical scenarios with insightful expert commentary. 

MM/US/DISEASE/1151