APR 29, 2021 4:35 PM CEST

Haematological malignancy samples molecular characterization - in a NGS way



Next Generation Sequencing (NGS) based molecular tests have been the one of the major focus for the expansion of molecular service provided by Haemato-oncology Diagnostic Service (HODS) in Royal Liverpool University Hospital. The move of NGS platform from Ion PGM to GeneStudio has enabled us to meet the requirement of molecular diagnosis for haematological malignancies. The further move to Genexus system is a way to improve turnaround time and capacity of the NGS tests. With Genexus platform we have been able to expand our NGS test repertoire even further to customised panels.  Customised panel based on Ion Ampliseq technologies provide the flexibility of NGS assay for both molecular diagnosis service and in depth molecular characterisation of haematological malignancy samples At an integrated part of the NGS platform evolution, the data analysis workflow has been optimized and validated to generate clinical relevant variant calling. The use of fusion transcript NGS screening for fusion transcript copy number change has also been explored.

Learning Objectives:

1. S5 evolution of service and benefits of NGS by Genexus

2. Set-up of Genexus in a Molecular Laboratory

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