LEIGH SYNDROME AND MITOCHONDRIAL ENCEPHALOPATHY: CLINICAL EXOME PANEL (Sec. & CNVs) – 144 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Leigh Syndrome and Mitochondrial Encephalopathy panel analyzes 144 genes involved in alterations of the mitochondrial respiratory chain and in the biogenesis and maintenance of mitochondrial DNA, which are responsible for a wide range of mitochondrial encephalomyopathies. These pathologies are characterized by psychomotor regression, hypotonia, lactic acidosis, brainstem dysfunction, and multi-organ failure, frequently with onset in childhood. The study includes genes related to complexes I–V, fatty acid oxidation, coenzyme Q10 synthesis, pyruvate metabolism, and mitochondrial protein assembly. Some of the most relevant genes included in this panel are: SURF1, NDUFS1, NDUFAF2, COX10, COQ2, POLG, DGUOK, TK2, SUCLA2, SUCLG1, MPV17, and TMEM70, among others. You can consult the complete list of genes by contacting Genotica.
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