CYTOCHROME C OXIDASE DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 15 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Cytochrome C Oxidase Deficiency Panel analyzes 15 genes associated with defects in complex IV of the mitochondrial respiratory chain, responsible for the final step in cellular energy production (oxidative phosphorylation). Mutations in these genes cause a wide variety of clinical manifestations, ranging from lethal neonatal forms to mitochondrial myopathies and progressive encephalopathies. Among the most relevant genes are SURF1, associated with Leigh encephalopathy; SCO1 and SCO2, linked to cardiomyopathies and liver failure; and COX10, COX15, and COA6, involved in the maturation and assembly of complex IV. Patients may present with hypotonia, muscle weakness, lactic acidosis, psychomotor retardation, multiple organ failure, or progressive neurological symptoms. This panel uses next-generation sequencing (NGS) technology to detect SNVs, indels, and CNVs in nuclear genes related to the assembly and function of the cytochrome c oxidase complex. Genes included: COA5, COA6, COX10, COX14, COX15, COX20, COX4I1, COX5A, COX6B1, COX7A1, COX7A2, FASTKD2, SCO1, SCO2, SURF1.
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