Genetic nephrolithiasis [50 genes]

Monogenic forms of nephrolithiasis are infrequent, but they account for a significant number of cases among patients who develop chronic/terminal renal disease. Many genetic defects that produce these pathologies are found in genes involved in vitamin D metabolism, tubular reabsorption of calcium, glyoxylate, and purines. They are generally associated with early onset and chronic progressive renal disease; therefore, genetic diagnosis is important for establishing prognosis and possible personalized treatment options. It can  be associated with abnormal deposition of calcium phosphate (nephrocalcinosis) or calcium oxalate (oxalosis) in the renal parenchyma and increased levels of urinary calcium (hypercalciuria).

~1/10,000 (1% of infantile nephrolithiasis)

Identifying genetic variants causing nephrolithiasis allows for a precise molecular diagnosis that provides the necessary information to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.

This panel is indicated when there is suspicion of genetically based nephrolithiasis syndrome that may include the following clinical characteristics:

• Nephrocalcinosis
• Nephrolithiasis
• Hypercalciuria
• Hypophosphatemia