MITOCHONDRIAL COMPLEX II DEFICIENCY (NUCLEAR GENES): CLINICAL EXOME PANEL (Sec. & CNVs) – 4 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Mitochondrial Complex II Deficiency Panel analyzes four nuclear genes involved in the function of complex II (succinate dehydrogenase), a key enzyme in the mitochondrial respiratory chain and the Krebs cycle. Alterations in these genes lead to reduced cellular energy production, resulting in mitochondrial encephalopathies, myopathies, lactic acidosis, and, in some cases, a predisposition to paraganglionic tumors. The most relevant genes include SDHA, SDHAF1, SDHB, and SDHD. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, the panel identifies variants responsible for complex II dysfunction.
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