Summary
Treatment of nephrolithiasis can be guided by understanding the molecular pathway involved. Along with biochemical testing, genetic testing can be a helpful tool to inform a precise diagnosis. In this study, we retrospectively reviewed results from next-generation sequencing-based multi-gene panel tests completed at Blueprint Genetics for 160 individuals with suspected monogenic nephrolithiasis. Key findings included
- A positive result, across 14 genes, was reported in ~22% of individuals in this cohort.
- CYP24A1-associated autosomal recessive hypercalcemia/hypercalciuria and SLC7A9-associated autosomal dominant and recessive cystinuria were the most frequent positive results.
- Genes associated with hypercalciuric nephrolithiasis accounted for almost half of positive results.
We conclude that approximately 1 in 5 individuals with suspected monogenic nephrolithiasis who underwent multigene panel testing received a positive result in this cohort.
Authors:
Fábio Arrojo, Alicia Scocchia, Johanna Huusko, Manuel Bernal, Satu Valo, Allison Sluyters, Kimberly Gall, Julie Hathaway, Victoria Howell, Meena Mahey-Kumar, Inka Saarinen, Tiia Kangas-Kontio, Lotta Koskinen, Janica Djupsjöbacka, Ville Kytölä, Pertteli Salmenperä, Samuel Myllykangas, Juha Koskenvuo