MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION DISORDER: CLINICAL EXOME PANEL (Sec. & CNVs) – 212 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Mitochondrial Oxidative Phosphorylation Disorder panel analyzes 212 genes involved in the mitochondrial respiratory chain (complexes I–V), mitochondrial biogenesis, metabolite transport, and mitochondrial DNA synthesis and maintenance. These alterations are associated with a wide range of mitochondrial encephalomyopathies, characterized by myopathy, muscle weakness, exercise intolerance, lactic acidosis, neurological delay, and multiple organ failure. The panel identifies mutations in nuclear genes that encode proteins essential for cellular energy production and the assembly of mitochondrial complexes. Among the most relevant genes are NDUFS1, SURF1, COX10, COQ2, POLG, MPV17, TK2, SUCLG1, TMEM70, and SCO2, among others. A complete list of genes can be obtained by contacting Genotica.
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