Mitochondrial diseases are a group of genetic disorders that primarily affect the function of mitochondria, the energy-producing structures within cells. These disorders can arise from variants in either mitochondrial DNA or nuclear DNA. Variants in nuclear genes associated with mitochondrial function are often included in the targeted gene panels or exome sequencing tests used in clinical settings.
In general, WES focuses on sequencing the protein-coding regions of the nuclear genome, known as the exome. This means that the primary target of WES is the DNA found within the cell nucleus, which does not include the entirety of the mitochondrial genome.
If a suspected mitochondrial disease is being investigated, clinicians should consider additional testing methods, such as mitochondrial DNA sequencing or targeted panels that specifically focus on mitochondrial genes. These specialized tests had known that it could provide a more comprehensive analysis of mitochondrial DNA mutations, complementing the information obtained from exome sequencing.
However, some WES services may offer additional analysis or options to include the analysis of mitochondrial DNA. This could involve either specific bioinformatics pipelines or the use of specialized sequencing panels or capture kits that target both the nuclear exome and the mitochondrial genome.
Why 3billion's WES different?
With 3billion enhanced our whole exome sequencing service, the mean depth increased up to 70% and almost all MT bases continuously have >20x coverage now. Also we improved coverage of the RPGR ORF15 exon, which is a well-known exome coverage drop-out region despite various disease-causing variants being reported within. We are not done yet. Including Intronic regions of GLA and RPE65 genes, large number of non-coding disease-causing variant positions are covered. (more information here)
If you are specifically interested in the inclusion of mitochondrial DNA detection in a WES service, learn more about our services with an brochure exclusively for healthcare providers!
