Blueprint Genetics
EVENT
CCMG 2019

Blueprint Genetics will attend CCMG annual meeting in Niagara Falls, Canada on June 22-25, 2019. This scientific conference gathers healthcare professionals, trainees and decision-makers with a focus on medical genetics. Read more about the conference here.

Join our breakfast seminar

Monday, June 24, at 7:30-8:30, Sheraton on the Falls Hotel, Fallsview Studio ABC

Closing the Gap: The Diagnostic Power of High Resolution CNV by NGS, presented by Laboratory Director Jennifer Schleit, PhD, Blueprint Genetics.

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.

Learning objectives:
  • 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

Meet our team

Christine Davies, Allison Sluyters and Jennifer Schleit are available to meet and discuss Blueprint Genetics latest updates in genetic testing.

 

 

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Last modified: 06.26.2019