LACTIC ACIDOSIS AND PYRUVATE METABOLISM DISORDERS: CLINICAL EXOME PANEL (Sec. & CNVs) – 130 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
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.
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