MITOCHONDRIAL DNA DEPLETION SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 27 genes

The Mitochondrial DNA Depletion Syndrome panel analyzes 27 genes involved in inherited disorders that cause a significant reduction in the number of mitochondrial DNA (mtDNA) copies in energy-dependent tissues, such as the liver, brain, and muscle. These diseases are associated with progressive myopathies, encephalopathy, hepatopathy, multiple organ failure, and optic neuropathy, and can be inherited in an autosomal recessive or dominant pattern. The genes studied are involved in mtDNA replication, maintenance, and repair, nucleotide metabolism, and mitochondrial function. Among the most relevant are POLG, POLG2, TK2, RRM2B, DGUOK, MPV17, TWNK, SUCLA2, SUCLG1, and FBXL4, which are responsible for the main clinical variants. Next-generation sequencing (NGS) allows for the detection of pathogenic variants and nuclear variants (CNVs) in nuclear genes that affect mitochondrial genome stability. You can consult the complete list of genes by contacting Genotica.