After years of searching for answers, GeneDx trio exome sequencing gave Olivia’s family and doctors the missing pieces they needed. By testing Olivia alongside both of her parents, the results uncovered key genetic findings that helped her doctors connect the dots, provide diagnoses, and map out a personalized care plan. The test also brought an unexpected breakthrough for Olivia’s mom, Hilary - revealing an inherited genetic change that finally explained some of her own lifelong health struggles and helped her get the right care, too.

When unexpected findings during pregnancy led to a NICU stay, rapid genome sequencing gave Cayden’s family an answer within days. His diagnosis helped them begin specialist care, early intervention, and care planning without a prolonged diagnostic journey.

Genome sequencing gave Everly’s family an answer after earlier testing did not. Her FRRS1L disease diagnosis brought clarity—and sparked a mission to help future children receive answers earlier and advance a potential treatment for this ultra-rare condition.

When Mora began missing developmental milestones, her parents trusted their instincts and continued searching for answers. Exome sequencing identified SYNGAP1-related disorder, helping her family and care team proactively monitor for seizures and access earlier interventions and specialized care.

After years of searching for answers, genetic testing identified Maxwell's SLC6A1-related disorder, transforming uncertainty into a roadmap for care, advocacy, and groundbreaking research that helped pave the way for the first treatment for his condition.

After years of living with a cerebral palsy diagnosis, broader genetic testing finally gave Abbie and her family an answer. Learn how exome sequencing uncovered hereditary spastic paraplegia type 26 (SPG26), giving Abbie's family long-awaited answers and reshaping her diagnosis, care, and future.

Two brave parents said yes to genome-based newborn screening—and found answers quickly when their newborn began having seizures.