Precise and accurate detection of mutations and copy number alterations in CLL using enrichment-based targeted NGS

This study explores the use of next-generation sequencing (NGS) to test for actionable copy number alterations (CNAs) in chronic lymphocytic leukaemia (CLL) samples, something that has traditionally been done by fluorescence in situ hybridisation (FISH).

The results of this study evidence the efficiency of the SureSeq™ CLL+CNV V3 Panel in the detection of small variants and CNAs in CLL samples, including:

• The calling of actionable mutations of at least 2.5% VAF
• The calling of all disease associated clonal copy number alterations within the methods detection limit (20%)

The use of NGS, therefore, may help reduce the burden of issues associated with CLL testing, enabling reliable detection of < 1Mbp alterations which could be missed during FISH analysis.