UREA CYCLE DEFICIENCY AND HYPERAMMONEMIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 85 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Urea Cycle Deficiency and Hyperammonemia Panel analyzes 85 genes involved in inherited disorders affecting the elimination of ammonia, a toxic byproduct of protein metabolism. These disorders lead to hyperammonemia, metabolic crises, vomiting, lethargy, encephalopathy, coma, and, in severe cases, irreversible neurological damage. The panel includes genes responsible for major urea cycle defects, such as CPS1, OTC, ASS1, ASL, and ARG1, as well as genes involved in related diseases that present with secondary hyperammonemia, such as fatty acid β-oxidation defects (CPT1A, CPT2, ACADM, HADHA, HADHB), cofactor deficiencies (MMACHC, MMAB, MMAA, MTR, MTRR), mitochondrial defects, and amino acid transport disorders (SLC25A13, SLC25A15, SLC7A7). Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this study allows for a comprehensive evaluation of the primary and secondary genetic causes of congenital or acquired hyperammonemia. Some of the genes included in this panel are: CPS1, OTC, ASS1, ASL, ARG1, NAGS, GLUL, GLUD1, SLC25A13, SLC25A15, SLC7A7, and MUT, among others. For a complete list of genes, please contact Genotica.
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