ORGANIC ACIDEMIA AND COBALAMIN DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 97 genes
The Organic Acidemia and Cobalamin Deficiency Panel analyzes 97 genes associated with congenital disorders of intermediary metabolism that affect the oxidation of amino acids, fatty acids, and organic acids, as well as cobalamin (vitamin B12) metabolism. These diseases, which include methylmalonic, propionic, isovaleric, and glutaric acidemias, and multiple dehydrogenase deficiencies, manifest with metabolic acidosis, recurrent vomiting, hypoglycemia, hypotonia, encephalopathy, and developmental delay. The panel studies genes involved in mitochondrial and cytosolic pathways essential for the conversion of energy intermediates, as well as in the transport and utilization of vitamin B12. Some of the genes included are: MUT, MMACHC, MMADHC, PCCB, PCCA, ETFDH, ETFA, ETFB, IVD, GCDH, ACAD8, ACSF3, LIAS, and SUCLG1, among others. You can consult the complete list of genes by contacting Genotica.
Delivery time
3-4 weeks
Sample
Blood
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