Genetic Test
The SLC2A9 (Solute Carrier Family 2 Member 9) gene encodes a protein involved in glucose transport and plays a critical role in maintaining glucose balance within the body and at the cellular level.
In addition to its role in glucose handling, this protein is also involved in the transport of uric acid.
Mutations in the SLC2A9 gene have been associated with conditions such as hyperuricosuria (excess uric acid in the urine) and urolithiasis (urinary stone formation).
This genetic test targets a specific SLC2A9 mutation linked to an increased risk of hyperuricosuria and urate stone formation.
Disease Description
Hyperuricosuria is a renal disorder characterized by the excessive excretion of uric acid in the urine.
While uric acid is a naturally occurring byproduct of metabolic processes, abnormal accumulation and elimination—often due to dysfunction in the kidneys or urinary tract—can lead to persistently elevated uric acid levels in the urine.
This condition increases the risk of urate crystal and stone formation in the kidneys, bladder, and urinary tract.
Without proper management, these stones can cause discomfort, urinary obstruction, and other serious complications.