This Collection will address the latest developments in the diagnosis of haematological malignancies. The application of next generation sequencing (NGS) and molecular karyotyping (chromosome microarray, CMA) into routine laboratory investigations, along with classical approaches, have significantly changed the accuracy and speed of diagnostic processes. The availability of different platforms of both NGS and CMA offers ways of customising the diagnostic routines to adapt to local requirements. As genetic profiles of haematological cancers are diverse, creating algorithms to provide a comprehensive, timely and cost-effective cover for most common disorders is a challenge. Many questions need to be addressed including:
• What would be a recommended panel for target NGS? Should it be a dedicated myeloid/lymphoid or combined panel?
• Do combined DNA/RNA based NGS panels offer a comprehensive cover?
• Should high resolution CMA/LOH replace G banding?
• Do NGS panels provide sufficient information about copy number changes, CNVs and/or SNPs?
• Is it time to replace FISH? If so, what would be an easy, fast, and cost-effective alternative?
• Could optical genome mapping (OGM) be a first line diagnostic tool?
• How to conduct MRD screening?
The aim of this Collection is to discuss alternatives for obtaining comprehensive genetic profiling to assist the diagnosis and treatment options until such times when a single whole genome sequencing test would be available.