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.
- 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.