Technical and practical considerations of utilising OGT’s SureSeq CLL + CNV NGS panel in CLL research

Dr. Peter Sabatini, PhD, FCCMG

Laboratory Director, Genome Diagnostic Laboratory, University Health Network, Toronto, Ontario, Canada & Assistant Professor, Department Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada

Peter is certified in both molecular and cytogenetics with the Canadian College of Medical Geneticists and his research work focuses on improving genomic laboratory diagnostics by integrating novel technologies into routine clinical practice specifically for tumor testing.

Graeme Quest, MD, MSc FRCPC

Medical Director, Histocompatibility and Immunodiagnostics Laboratory, Kingston Health Science Center, Ontario, Canada & Assistant Professor, Department of Pathology and Molecular Medicine, Queen’s University, Ontario, Canada

Graeme’s academic interests are in the pathobiology of lymphoproliferative disorders and translational applications in clinical diagnostic, prognostic, and predictive testing.

Presented at GLGC 2022, hear how our customers Dr. Peter Sabatini and Dr. Graeme Quest streamlined their CLL research and utilised OGT’s SureSeq™ CLL + CNV NGS panel to detect CNVs in five chromosomal regions as well as SNVs and indels in key genes implicated in CLL.

In Dr. Sabatini's presentation he shares his experience validating OGT’s SureSeq CLL+CNV in UHN’s genomic labs. Sabatini illustrates how the SureSeq CLL+ CNV NGS panel has assisted his laboratory in their CLL research by enabling the detection of CNVs and SNVs variants simultaneously, replacing the need for multiple technologies.

In Dr. Quest's presentation he reviews CLL testing guidelines and the importance of detecting somatic TP53 gene mutations and deletional loss in 17p. He also shares how combining TP53 SNV and CNV status testing in one NGS assay utilizing the SureSeq CLL + CNV panel delivers accurate results and may reduce cost and turn-around time (TAT).

Recent publications from the speakers

Dr Peter Sabatini, PhD, FCCMG

1. Development of a comprehensive approach to adult hereditary cancer testing in Ontario
2. Genomic analysis of early-stage lung cancer reveals a role for TP53 mutations in distant metastasis
3. Integrating comprehensive genomic sequencing of non-small cell lung cancer into a public healthcare system

Graeme Quest, MD, MSc FRCPC

1. Validation, implementation, and clinical impact of the Oncomine myeloid targeted-amplicon DNA and RNA ion semiconductor sequencing assay
2. Clonal lineage and somatic hypermutation analysis of chronic lymphocytic leukemia by long-amplicon IGH chain sequencing
3. Clonal lineage analysis of CLL research samples by IGH chain sequencing to reveal novel CLL subgroups defined by ongoing class-switch recombination and somatic hypermutation

Disclaimer

This presentation is intended for educational purposes only and does not replace independent professional judgment. Statements of fact and opinions expressed are those of the presenters individually and, unless expressly stated to the contrary, are not the opinion or position of the Oxford Gene Technology Group (OGT). OGT does not endorse or approve, and assumes no responsibility for, the content, accuracy or completeness of the information presented.

SureSeq™: For Research Use Only; Not for Use in Diagnostic Procedures.