AMINOACIDURIES: CLINICAL EXOME PANEL (Sec. & CNVs) – 13 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Aminoacidurias Panel analyzes 13 genes associated with inherited defects in amino acid transport and metabolism, responsible for various metabolic diseases such as cystinuria (SLC3A1, SLC7A9), Hartnup syndrome (SLC6A19), lysinuric hypercystinuria (SLC7A7), nonketotic hyperglycinemia, and alterations in the renal transport of neutral, basic, or acidic amino acids. These pathologies are characterized by excessive urinary excretion of amino acids, with clinical manifestations including growth failure, vomiting, encephalopathy, nephrolithiasis, and neurological disorders. The study uses next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, allowing for precise characterization of genetic defects affecting intestinal absorption and renal tubular reabsorption. Some of the genes included in this panel are: SLC3A1, SLC7A9, SLC6A19, SLC7A7, SLC1A1, SLC36A2, and SLC2A2, among others. You can consult the complete list of genes by contacting Genotica.
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