Industry Symposia - 2019

Monday, June 24 

Industry Sponsored Breakfast Symposium


Blueprint Genetics


Closing the Gap: The Diagnostic Power of High Resolution CNV detection by NGS


Dr. Jennifer Schleit. Laboratory Director, Blueprint Genetics NGS Laboratory, Seattle WA USA

Copy number variants (CNVs) were historically felt to play a small but important part in molecular diagnostics. However, recent studies suggest that up to 35% of patients in certain clinical specialties may have a disease-causing CNV. As detection capabilities improve CNVs are playing a larger role than previously anticipated. This seminar will review the capabilities and limitations of different CNV detection methods, with an emphasis on the newly-developed NGS-based CNV detection methods. We will use case examples to highlight the diagnostic power of combining both CNV detection and sequence analysis in a single testing method.


At the end of the session, the participants will be able to:

  • Review different CNV detection methods and their limitations
  • Describe in detail, the recently developed NGS-based CNV detection methods
  • Present case examples demonstrating the effectiveness of performing sequencing and CNV analysis at the same time in a patient