Mitochondrial disorders are heterogeneous in nature which becomes a problem while studying the mutation. Next generation sequencing (NGS) addresses these challenges. NGS has enabled and enhanced the diagnosis of mitochondrial disorders. NGS has enabled a systematic analysis of whole mitochondrial DNA and better detection sensitivity. The sequencing data so obtained requires to be analysed by bioinformatics tools, these tools allow detection and quantification of mtDNA variants. A standardized pipeline is thus required to predict variant pathogenicity.
In addition to sensitive NGS protocols for mtDNA, we also give accurate genetic counselling, especially for individuals with primary mitochondrial diseases.
Detection of common and uncommon mitochondrial point mutations and deletions
Accurate, sensitive measurement of heteroplasmy