Mitochondrial DNA (mtDNA) sequencing
Available on both Illumina and PacBio Platforms, CD Genomics offers
the accurate and affordable mitochondrial DNA sequencing solution
you’re looking for.
The Introduction of mtDNA Sequencing
Mitochondrial DNA (mtDNA) is a compact, double-stranded circular
genome of 16,569 bp with a cytosine-rich light (L) chain and a guanine-
rich heavy (H) chain. Mitochondria play a very important role in
important cellular functions. In addition to producing over 90% of the
energy required by a cell, mitochondria also generate reactive oxygen
species (ROS) and participate in apoptosis and other important cellular
functions. The mutant mtDNA and the wild type may co-exist as
heteroplasmy, and cause human disease, including cancer, heart
disease, diabetes, Alzheimer’s disease, Parkinson’s disease and
hypertension. Because there is considerable clinical variability between
mitochondrial disorders and many patients who exhibit phenotypes that
overlap diseases, often diagnosis may only be confirmed by
identification of a pathogenic mtDNA variant through molecular genetic
testing of DNA extracted from a blood sample. Mitochondrial DNA
sequencing is a useful tool for researchers to study human diseases,
and be also used in population genetics and biodiversity assessments.
Mitochondrial DNA sequencing is available on both Illumina’s MiSeq,
and PacBio Sequel System. Illumina next-generation sequencing (NGS)
has the potential to transform mtDNA analysis. Take advantage
of PacBio’s long reads, CD Genomics present amplification-free, full-
length sequencing of linearized mtDNA. Full-length sequencing allows
variant phasing along the entire mitochondrial genome, identification of
heteroplasmic variants, and detection of epigenetic modifications that
are lost in amplicon-based methods.
Key Features and Advantages
Capture efficiency & high coverage, 100% amplicon coverage of
all regions of the mitochondrial genome
Highest accurate detection of rare variants in mtDNA
Novel bioinformatics analysis programs and pipelines
Well-experienced personnel
Project Workflow
