MITOCHONDRIAL COMPLEX IV DEFICIENCY (NUCLEAR GENES): CLINICAL EXOME PANEL (Sec. & CNVs) – 14 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Mitochondrial Complex IV Deficiency Panel studies 14 nuclear genes involved in the formation and assembly of complex IV (cytochrome c oxidase), the final enzyme in the mitochondrial respiratory chain. Mutations in these genes can cause mitochondrial encephalomyopathies, Leigh syndrome, congenital myopathy, liver disease, and lactic acidosis due to impaired cellular energy production. Among the most relevant genes are COA5, COX10, COX15, COX6B1, SCO1, SCO2, SURF1, and TACO1. Using next-generation sequencing (NGS) with analysis of SNVs, indels, and CNVs, this panel allows for the detection of genetic variants responsible for complex IV dysfunction.
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