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:
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Using a simple at home blood sample, we can collect the 100% of your DNA and analyze the genetic sequence in our lab.
The sequence is divided into several parts, amplified, grouped in clusters and then sequenced.
This sequencing process reveals the order of nucleotides that make up the original DNA sample.
We then compare the genome with a generic and globally recognized reference DNA sequence.
Simple Blood Sample Collection
Painless, quick at home sample collection. User friendly device with CE-IVD mark and FDA approval.
Simply follow the packaging instructions and send the sample back using the pre-paid returns label.
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Our extensive network of geneticists will provide you with specialized genetic counseling on the topics that are most relevant for you such as diet and nutrition, fitness, injuries and many more.
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