Case Study: Bambino Gesù Children’s Hospital achieves more efficient genetic analysis of kidney disease with SOPHiA GENETICS

Bambino Gesù Children’s Hospital processes thousands of kidney disease samples per year with SOPHiA GENETICS

Bambino Gesù Children’s Hospital, the largest pediatric hospital and research center in Europe, faced a challenge in diagnosing rare pediatric kidney diseases. Their laboratory needed an analytical technology to better assess complex genes and identify copy number variations, moving beyond older methods like Sanger sequencing. They collaborated with SOPHiA GENETICS to address this.

SOPHiA GENETICS implemented its SOPHiA DDM™ Nephropathies Solution, which was co-designed with the hospital. This solution targets 44 genes associated with hereditary nephrology disorders, providing high on-target rates and the ability to confidently call SNVs, Indels, and CNVs. The hospital's laboratory successfully implemented this solution, using it to process thousands of samples per year. This provides patients with molecular diagnoses for access to adequate therapeutic care and allows their families to plan for the future. SOPHiA GENETICS enabled the lab to process a large number of samples simply and gain exhaustive insights.

Bambino Gesù Children’s Hospital