Genetic Test
The SLC7A9 (Solute Carrier Family 7 Member 9) gene encodes a protein involved in the reabsorption of cystine and other dibasic amino acids within the renal tubules of the kidney.
This transporter works in coordination with other proteins to prevent excessive loss of cystine into the urine.
Mutations in the SLC7A9 gene impair this reabsorption process, resulting in elevated cystine levels in the urine, which can lead to the formation of cystine stones (uroliths) in the urinary tract.
This genetic test targets a specific SLC7A9 mutation associated with Cystinuria Type 2B.
Disease Description
Cystinuria is a hereditary disorder caused by defects in the renal tubules that impair the reabsorption of cystine in the kidneys.
As a result of mutations in genes responsible for cystine transport, excessive amounts of cystine are excreted into the urine.
Because cystine is poorly soluble, it readily forms crystals and stones (cystine uroliths) in the urinary tract, which can lead to urinary obstruction, discomfort, and other complications.
