LACTIC ACIDOSIS AND PYRUVATE METABOLISM DISORDERS: CLINICAL EXOME PANEL (Sec. & CNVs) – 130 genes

The Lactic Acidosis and Pyruvate Metabolism Disorders panel analyzes 130 genes associated with mitochondrial and cytosolic defects that affect energy metabolism, particularly the conversion of pyruvate to acetyl-CoA and oxidative phosphorylation. These disorders include deficiencies of the pyruvate dehydrogenase complex (PDHA1, PDHB, PDHX, PDP1, PDK3), mitochondrial respiratory chain defects (NDUFS1, NDUFS4, COX10, SCO2, SURF1), β-oxidation disorders, and defects in lactic acid and propionate metabolism (PCCA, PCCB, PC). Clinically, they are characterized by recurrent lactic acidosis, encephalopathy, hypotonia, psychomotor retardation, and multi-organ failure in severe cases. This panel uses next-generation sequencing (NGS) with SNV, indel, and CNV analysis to detect pathogenic variants in genes involved in cellular energy production and utilization. Some of the included genes are: PDHA1, PDHX, DLAT, DLD, PC, NDUFS1, COX10, SCO2, SURF1, SUCLA2, and SUCLG1, among others. For a complete list of genes, please contact Genotica.