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Dr. Fléchère Fortin, PhD, FCCMG

Dr. Fléchère Fortin

Scientific Director, Cytogenetics laboratory, Medical Genetics Division, CIUSSS de l’Estrie -CHUS, Quebec, Canada

Dr Fortin started to work as a Scientific Director of the Cytogenetics lab within the Medical Division of Sherbrooke University Health Center (Quebec, Canada) in 2013. Rapidly, she implemented HER2 FISH testing, a chromosomal breakage assay for Fanconi anemia and lymphoma tissue FISH testing. Additionally, she transitioned prenatal interphase FISH assay to a molecular assay for rapid aneuploidy testing, validated aCGH in oncology for acute lymphoblastic leukaemia (ALL) and CLL and automated GTG metaphase capture.

Always interested in new technologies and streamlining laboratory workflows, she recently started to collaborate on the development of implementing NGS-based copy number variation (CNV) assays in the lab, as a replacement for aCGH in constitutional and oncology applications. These tests are now being validated in the lab and are expected to be clinically offered by the end of 2020.

In this presentation Dr. Fortin will talk about transitioning from microarray to the SureSeq™ CLL + CNV NGS panel, and how the SureSeq CLL + CNV NGS Panel delivers a comprehensive genomic profile for each chronic lymphocytic leukaemia (CLL) sample using a single workflow, including trisomy 12, 11q, 13q and 17p deletions.


Recent publications from the speaker

  1. Goals, methods and challenges in a clinical validation of a NGS-based platform for the detection of constitutional CNVs
  2. Genetic evaluation of CLL using SNP-array CGH: Comparison with retrospective FISH data in our institution
  3. Constitutional chromotripsis case: 4 deletions and 9 breaks involving 2 chromosomes in a patient referred for short stature and global developmental delay



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.

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