Cystinuria Report

CystinuriaCystinuria is caused by gene mutations that impair the kidneys' ability to reabsorb the amino acid cystine, which is then lost in urine. This impairment is due to the lack of the specific transporter which, under normal conditions, recovers the amino acids from the filtrate to re-introduce them into the bloodstream.All 2 genes analyzed It is recommended if: This test is particularly indicated for those with suspected diagnosis of cystinuria (who manifest, for example, early cystine stones and/or high levels of cystine in the urine) and to evaluate their own genetic risk in the case of affected family members or to plan a pregnancy . List of main conditions: Cystinuria