CNS 2025

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.