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?

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noon...

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