Agilent Automated NGS Solutions Advance Rare Disease Research At Robert Debré Hospital

Rare disease research demands precise, scalable methods that keep pace with expanding genomic knowledge. At Robert-Debré Hospital in Paris, the molecular genetics laboratory has built a unified next‑generation sequencing (NGS) workflow that supports high-throughput analysis across constitutional, somatic, and prenatal samples. By standardizing library preparation, target enrichment, and quality control within a single automated ecosystem, the team can process more than 5,000 samples each year while maintaining consistency and accuracy. Automation helps streamline urgent cases, reduce hands‑on time, and simplify training for new users. The lab’s experience shows how a cohesive NGS strategy can improve efficiency, support growing test volumes, and strengthen the foundation for rare disease discovery.

Explore the full case study to see how this approach enables faster insights for complex genomic investigations.