MITOCHONDRIAL COMPLEX III DEFICIENCY (NUCLEAR GENES): CLINICAL EXOME PANEL (Sec. & CNVs) – 7 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Mitochondrial Complex III Deficiency Panel analyzes seven nuclear genes that encode proteins essential for complex III (coenzyme Q-cytochrome c reductase) of the mitochondrial respiratory chain. Mutations in these genes can cause mitochondrial encephalomyopathies, myopathies, hepatopathies, and lactic acidosis, with variable onset manifestations. Some of the most relevant genes included in this panel are BCS1L, CYC1, LYRM7, TTC19, UQCRB, UQCRC2, and UQCRQ. Using next-generation sequencing (NGS) with analysis of SNVs, indels, and CNVs, this study allows for the detection of alterations responsible for complex III dysfunction.
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