“My advice to parents would be to try to get that information and push for exome sequencing as early as possible because the more information you have earlier, the more you’re potentially able to do and help your child’s long-term outcome.”—Andrea, Carlotta's mother

William missed some early motor milestones, experienced speech delays and stiff muscles, and exhibited behaviors consistent with autism. Ordering exome sequencing as a first-line genetic test could have uncovered answers within weeks. But because William’s doctors waited for signs and symptoms, it took over 7 years—and the onset of seizures—to receive a definitive diagnosis.^†

See how one test delivered answers for Oliver and gave him a clear path forward.^†

Claire initially began experiencing unexplained seizures at the age of 5 months; her parents also noticed a delay in her development. Ordering GeneDx exome as a first-line test could have meant answers within weeks. Yet ordering stepwise testing meant it instead took almost two years.

Luca was experiencing respiratory distress and hypoglycemia at birth. He was immediately transferred to the NICU for monitoring and ongoing care. His outcome would have been vastly different without early rapid genome sequencing.^†