MITOCHONDRIAL COMPLEX I DEFICIENCY (NUCLEAR GENES): CLINICAL EXOME PANEL (Sec. & CNVs) – 29 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Mitochondrial Complex I Deficiency Panel analyzes 29 nuclear genes involved in the biogenesis, assembly, and function of complex I (NADH dehydrogenase) of the mitochondrial respiratory chain. Alterations in these genes can cause mitochondrial encephalomyopathies, lactic acidosis, myopathy, cardiomyopathy, and other multisystem disorders related to energy dysfunction. Notable genes include ACAD9, FOXRED1, NDUFAF1, NDUFS1, NDUFS2, NDUFV1, NDUFA9, POLG, and NUBPL, among others. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel allows for the identification of pathogenic variants responsible for complex I dysfunction.
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