Case Study: Bambino Gesù Children’s Hospital achieves comprehensive renal genetic analysis with SOPHiA GENETICS

Collaborating with the Bambino Gesù Children’s Hospital to develop the SOPHiA Nephropathies Solution

Bambino Gesù Children’s Hospital, Europe’s largest pediatric hospital and research center, needed a more efficient way to analyze rare and inherited kidney disorders. Its Medical Genetics laboratory wanted to move from long-range PCR and Sanger sequencing to next-generation sequencing with targeted bioinformatics, particularly for complex renal genes such as PKD1 that involve homologous regions and CNVs.

SOPHiA GENETICS collaborated with the hospital to co-develop the SOPHiA DDM™ Nephropathies Solution, a 44-gene panel for hereditary nephrology disorders. The solution enables accurate calling of SNVs, indels, and CNVs, including differentiation of gene and pseudogene variants in PKD1, and has been implemented to process thousands of samples per year, helping the lab deliver faster, more comprehensive molecular diagnoses for patients and their families.

Bambino Gesù Children’s Hospital

Antonio Novelli

Director of the Medical Genetics Laboratory