Cystinuria is a rare condition in which stones made of an amino acid called cysteine form in the kidney, ureter, and bladder. Cystine is formed when two molecules of an amino acid called cysteine are bonded together. The condition is passed down through families.
Cystinuria 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.
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 .
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
- Available in less than 24 hours
- Based on Whole Genome Sequencing
- All 2 genes analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
This product is only meant for customers who already purchased a Dante Genome Test