CNS 2025 Visit Us At Booth #607

Child Neurology Society Annual Meeting


Ambry Genetics is a proud sponsor of the CNS annual meeting. Visit us at booth 607 to learn how our tests can help you and your patients fine clearer answers sooner -because every day without a diagnosis matters. We look forward to seeing you in Charlotte!

We're Excited For You to Join Us

The Power of Reanalysis: Why Genetic Testing Isn’t One-and-Done

Thursday, October 9 11:15am

Charlotte Convention Center 501 South College Street, Charlotte, NC 28202 US

This session explores the vital role of genetic reanalysis in pediatric neurology and how evolving gene-disease knowledge can turn initial test results into actionable diagnoses. For children with negative or uncertain findings, reanalysis can uncover answers as new information emerges—with support from a lab committed to collaborative care.

Attendees will hear how Ambry Genetics proactively monitors the literature, updates reports, and communicates gene reclassifications— without the need for a new test request. We'll discuss how updated phenotype information from clinicians can refine interpretations and increase diagnostic yield over time.

Kuntal Sen, MD, FACMG a neurometabolic geneticist, joins Susan Toomey, a genetic counselor at Ambry Genetics, for a session focused on the evolving role of reanalysis in pediatric genetics. Dr. Sen will present clinical teaching cases to illustrate how updated phenotypic information can enhance the value of reanalysis in patient care. Susan will discuss Ambry’s Patient for Life™ program and the importance of strong lab partnerships in supporting long-term outcomes and keeping clinicians informed as genetic knowledge advances.

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Research

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Scientific Posters

Poster # 227

Thursday, October 9, 2025 12:30 - 1:45pm

Meghan Towne, Melissa Holman, Carolyn Horton, Catherine Schultz, Brooklynn Gasser, Grace VanNoy, Jessica Gage. Laboratory-driven exome reanalysis increases diagnostic yield and decreases burden on clinicians.

Poster # 233

Thursday, October 9, 2025 12:30 - 1:45pm

Catherine Schultz, Grace VanNoy, Jessica Gage, Jessica Grzybowski, Shoji Ichikawa, Emily Kudalkar, Jesus Ramirez Castano, Brooklynn Gasser, Melissa Holman, Carrie Horton, Kevin Lam, Melissa Samons, Marcy E. Richardson, Heather Zimmermann. RNA and Reclassification: Assessing RNA Data in Rare Disease.

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