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




What are Multi-Gene Panels, Whole Exome Sequencing and Focused Exome Sequencing methods and how are they improving diagnostics?

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with Dr. Roger St...

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