Refining Focus- How Focused Exomes are Improving Next-Generation Sequencing Diagnostics

07.19.17

 

 

What are Multi-Gene Panels, Whole Exome Sequencing and Focused Exome Sequencing methods and how are they improving diagnostics?
Toddler looking at a book with her parents

Meet Nora

Meet the Eysen family! Two-year-old Nora was diagnosed with Infantile Pompe disease at birth. Her family received much-needed information and support in those first days from the Greenwood Genetic Center, and thanks to a quick diagnosis, Nora is on treatment, healthy, and thriving. And she is now a proud big sister!...

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