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The Biennial American Cytogenomics Conference (ACC) will be held online with this year with access to on-demand presentations available for 12 months.

Please plan to access this important presentation by Dr. Fléchère Fortin, Cytogenetics laboratory, Medical Genetics division, CIUSSS de l’Estrie- Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, QC, Canada. Details below:


Genetic evaluation of CLL: transitioning from a SNP-array CGH platform to a NGS-based CNV+SNV approach

Chronic lymphocytic leukemia (CLL) is the most common adult leukemia in Canada. Genetic evaluation can be done using conventional karyotyping, fluorescent in situ hybridization (FISH), genomic arrays, Sanger sequencing and next generation sequencing (NGS) methods. FISH usually targets 17p and 11q deletions, associated with poor clinical outcome. For almost 4 years, our laboratory as transitioned from FISH to genomic arrays.

Two years ago, we were approached to participate into a beta trial assay of the SureSeq CLL+CNV NGS panel developed by Oxford gene technology. We sent out 32 abnormal CLL samples with known aCGH results covering all tissue types, and all aberrations commonly observed in CLL: trisomy 12, deletions 11q (ATM gene loss), 13q (covering DLEU2 and DLEU7) and 17p(TP53 gene loss). Mono-allelic and bi-allelic deletions involving chromosomes 11 and 13 were sent, as well as low mosaics. Upon comparison of the beta trial results with our own results, we were very pleased, and decided to work onto validation and implementation of the SureSeq CLL+CNV NGS panel in our lab. I will present data obtained with the beta trial assay, as well as our first results and impressions regarding the validation process.

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