CYSTINURIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Cystinuria panel is designed for the genetic diagnosis of this inherited disorder of renal and gastrointestinal tubular transport of dibasic amino acids, characterized by the excessive excretion of cystine, lysine, ornithine, and arginine. The accumulation of cystine in the urine promotes the recurrent formation of kidney stones, making it a significant cause of lithiasis in children and young adults. Analysis of the genes involved allows for the identification of autosomal recessive and dominant forms, correlation of genotype and phenotype, and guidance of clinical and dietary management. Molecular detection of pathogenic variants is essential to confirm the diagnosis, prevent renal complications, and provide family genetic counseling. Key genes analyzed include SLC3A1, SLC7A9, PREPL, and others. A complete list of analyzed genes can be obtained by contacting Genotica.
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