Clarify genetic causes
Expert-backed testing to diagnose and differentiate
While dehydration, certain medications, diet, and digestive disorders are common factors that can increase the risk for electrolyte imbalances and the development of kidney stones, genetic causes are also linked to stone development.
Renal tubular loss of electrolytes or protein or the development of kidney calculi can signal underlying metabolic, endocrine, or renal tubular dysfunction that is genetic in origin, especially when symptoms are present in utero, infancy, or adolescence.
When the presence or severity of electrolyte imbalance or kidney stones cannot be explained by acquired causes or when there are multiple cases clustered within a family, genetic testing for the inherited causes of kidney or extrarenal impairment of osmoregulation may be considered.
Mayo Clinic Laboratories’ nephrocalcinosis, nephrolithiasis, and renal electrolyte imbalance gene panel assesses 72 genes associated with inherited conditions that can lead to stone development. Developed by a team of Mayo Clinic nephrologists and geneticists, our RSCGP testing panel uses next-generation sequencing to detect single nucleotide, deletion-insertion, and copy number variants in 72 genes associated with nephrocalcinosis, nephrolithiasis, and renal electrolyte imbalance.
Key testing
RSCGP | Nephrocalcinosis, Nephrolithiasis, and Renal Electrolyte Imbalance Gene Panel, Varies
Distinguish between primary and secondary hyperoxaluria
Primary hyperoxaluria is an inherited error of metabolism due to defective enzyme activity and is classified into types 1, 2, and 3. Increased urine concentrations of oxalate along with glycolate (type 1), glycerate (type 2), or 4-hydroxy-2-oxoglutarate (type 3), suggest a specific primary hyperoxaluria type. Follow-up genetic testing can confirm diagnosis.
Secondary hyperoxaluria is an acquired condition that is caused by an increased intake of dietary oxalate or altered intestinal oxalate absorption. With this condition, glycolate, glycerate, and 4-hydroxy-2- oxoglutarate (HOG) are not increased. When undiagnosed, these disorders can lead to recurrent renal stones, nephrocalcinosis, and often end-stage renal disease.
Experienced diagnostics for improved patient outcomes
Mayo Clinic Laboratories is integrated with the Hyperoxaluria Center at Mayo Clinic — one of the most experienced medical centers in the world for diagnosing patients who have primary and secondary hyperoxaluria. Mayo Clinic Laboratories hyperoxaluria panel can distinguish between the two forms of hyperoxaluria by quantifying excretion of oxalate, glycolate, glycerate and 4-hydroxy-2-oxoglutarate. The results of this assay are reported with interpretive comments and include recommendations for molecular testing.
Key testing
HYOX | Hyperoxaluria Panel, Random, Urine
When to consider testing