In accordance with the latest scientific findings, we are updating our panel for mitochondriopathies. The number of nuclear-encoded genes examined is extended from 265 to 359. Adding the number of mtDNA-encoded genes, a total of 396 genes is now examined, which can significantly increase the likelihood of identifying the causal variant.
The high sequencing depth of >1.000x of the mtDNA will also be featured in this version, which is important for the detection of heteroplasmies. In the case of nuclear-encoded genes, the average sequencing depth is >500x, sustaining the chance to detect mosaicisms.
In addition to the expansion of the panel, we now also offer 14 smaller, predefined gene sets. These grouped genes, which are associated with specific phenotypes, enable a targeted and cost-effective analysis of the respective disease pattern. Of course, the CeGaT panel for mitochondrial disorders continues to support our large panel approach in which all genes of the panel are sequenced at the same time – making the expansion of the analysis simple in case of negative findings.
The following predefined gene sets are now available: Leigh syndrome, mitochondrial encephalopathy / mitochondrial hepato(encephalotrigeminal)pathy, mitochondrial DNA depletion and deletion syndrome, pyruvate metabolism disorders, combined defect of oxidative phosphorylation (COXPD), complex I – V defect, CoQ10 deficiency and acyl CoA dehydrogenase deficiency, methylglutaconic aciduria, MELAS and MERRF syndrome, progressive external ophthalmoplegia.
The updated panel is now available. Our diagnostics support team is available at +49 7071 565 44 55 or firstname.lastname@example.org.