EP414: Diagnostic yield and clinical utility of nephrolithiasis and primary hyperoxaluaria sequencing panels

Abstract

Nephrolithiasis (so called kidney stones, renal calculi or urolithiasis) is one of the most common renal complications with more than 200,000 cases diagnosed in the US every year. While the etiology of nephrolithiasis is multifactorial involving both genetic and environmental factors, half of all affected individuals have a family history of kidney stones suggesting the genetic trait plays a vital role in disease manifestation. Primary hyperoxaluria is a rare disease of recurrent kidney or bladder stones that can lead to end stage renal disease.