COENZYME Q10 DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 16 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Coenzyme Q10 (CoQ10) Deficiency Panel analyzes 16 genes involved in mitochondrial metabolic disorders related to the biosynthesis or regeneration of Coenzyme Q10, an essential component of the mitochondrial respiratory chain and cellular energy metabolism. CoQ10 deficiency can manifest as encephalomyopathy, cerebellar ataxia, myopathy, nephropathy, epilepsy, or multiple organ dysfunction, depending on the affected gene and the degree of mitochondrial involvement. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies pathogenic variants in genes involved in the synthesis (COQ2, COQ4, COQ6, PDSS1, PDSS2) and functional regulation of CoQ10, as well as in secondary mitochondrial defects (ETFDH, APTX, MVK, ANO10). Accurate molecular diagnosis guides clinical management and the possibility of CoQ10 replacement therapy. You can consult the complete list of genes by contacting Genotica.
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