Nephrolithiasis and nephrocalcinosis are inherited disorders of mineral metabolism that result in recurrent kidney stone formation, renal calcifications, or progressive kidney disease. They commonly arise from abnormalities of calcium, phosphate, oxalate, uric acid, cystine, or electrolyte handling.

This panel includes genes associated with the major hereditary causes of nephrolithiasis and nephrocalcinosis, including cystinuria, primary hyperoxaluria, Dent disease, familial hypomagnesemia with nephrocalcinosis, renal tubular acidosis, and phosphate-wasting disorders. Representative genes include SLC3A1, SLC7A9, AGXT, CLCN5, CLDN16, CLDN19, ATP6V0A4, ATP6V1B1, CYP24A1, and SLC34A1.

This panel is recommended for patients with recurrent, early-onset, or familial kidney stones, nephrocalcinosis, or unexplained mineral metabolism disorders. It is most appropriate when an inherited stone-forming disorder is suspected.