Comparative analysis of testing methods used for the detection of PTDs in the KMT2A/MLL gene

José-Mario Capo-Chichi PhD, FCCMG, FACMG

Clinical Molecular Geneticist/Staff Scientist, Department of Clinical Laboratory Genetics, Genome Diagnostics, Laboratory Medicine Program, University Health Network, Ontario, Canada

Dr Capo-Chichi’s interests includes improvement of traditional molecular genetics approaches and development of novel diagnostic tests, particularly in cancer genetics, using high-throughput technologies like next-generation sequencing (NGS).

In this AMP 2022 session, Dr. Jose Mario Capo-Chichi shares his experience evaluating KMT2A- PTDs detection utilising three technologies; the SureSeq™ NGS panel with KMT2A specific probes engineered by OGT, an MLPA assay, and Optical Genome Mapping (OGM).

SureSeq Myeloid NGS panels coupled with OGT’s Interpret NGS software provide robust detection of KMT2A-PTDs.

Recent publications from the speaker

1. Comparing the analytical performance of exome sequencing and traditional panel testing in a cancer population
2. Molecular genetic characterization of Philadelphia chromosome-positive acute myeloid leukemia
3. A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings

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.