Copy number variants (CNVs) represent a small, but relevant part of molecular diagnostics. In this webinar Laboratory Director Dr Jennifer Schleit will review the capabilities and limitations of different CNV detection technologies, with an emphasis on more recently developed next-generation sequencing–based  CNV detection methods. We will use case examples to highlight the diagnostic power of combining both CNV and sequence analyses in a single testing method.

Webinar objectives:

• Review different CNV detection methods and their limitations
• Describe, in detail, the recently developed NGS-based CNV detection methods and demonstrate why our high resolution CNV detection is a powerful diagnostic tool
• Present case examples demonstrating the effectiveness of performing sequence and CNV analyses at the same time, increasing the diagnostic yield in inherited diseases