The 2022 World Health Organization (WHO) and International Consensus Classification updates for myeloid malignancies went beyond adjusting diagnostic thresholds and fundamentally redefined what constitutes a complete genomic profile. For many laboratories, keeping pace with these changes has required the adoption of broad-coverage NGS applications.

Margarida Coucelo, MSc, ErCLG, has led that transition at Unidade Funcional de Hematologia Molecular, Unidade Local de Saúde de Coimbra, one of Portugal's national reference centers for hemato-oncology, where she has investigated myeloid malignancies across the full disease spectrum, from chronic conditions such as myeloproliferative neoplasms (MPN) and myelodysplastic syndromes (MDS) through to acute leukemias.

This IPM webinar will describe how expanded NGS workflows are being applied in a high-volume reference setting, and the implications for laboratories navigating the evolving landscape of myeloid malignancy testing.

Key takeaways include:

• How a comprehensive DNA-based NGS approach can contribute to the identification of relevant variants and inform treatment options and risk stratification
• Cases studies that cover the detection of rare fusion genes and somatic variants, and how to consolidate germline predisposition testing within a single workflow

A live Q&A session followed the presentation offering a chance to pose questions to our expert panelists.

Produced with support from: