Genetic Testing in the Era of NGS - Lessons from the Hereditary Connective Tissue Disorders

Explore the molecular diagnostics of hereditary connective tissue disorders through this 34-minute webinar presented by ERN ReCONNET. Learn about the application of next-generation sequencing (NGS) technologies in genetic testing for conditions of interest to ERN ReCONNET members. Discover general principles and practical lessons from the field of hereditary connective tissue disorders, including insights into hypermobile Ehlers-Danlos syndrome and related conditions. Gain understanding of current approaches to molecular diagnostics, clinical consultations, and follow-up procedures in the context of hereditary connective tissue disorders, hereditary aortopathies, cardiogenetics, oncogenetics, and neurodevelopmental disorders. Benefit from expert guidance on the evolving landscape of genetic testing and its clinical applications in rare disease diagnosis and management.