As a small part of the human genome, Mitochondrial DNA (mtDNA or mDNA) with 16,569 base pairs is located in mitochondria. Mitochondrial DNA encodes totally for 37 genes, 13 are for proteins (polypeptides), 22 are for transfer RNA (tRNA) and two are for the small and large subunits of ribosomal RNA (rRNA). 

Mitochondrial disorders are heterogeneous, inherited diseases that can arise at any stage of life. Studying mutations associated with mitochondrial disorders remains a challenge due to phenotypic variability and genetic heterogeneity among individuals. 

Targeted re-sequencing focuses on particular nuclear or mitochondrial genes or gene regions (gene panels) that are selected based on a priori knowledge associated with mitochondrial disease. By sequencing only known mitochondria-relative genes, results are relatively easy to interpret and offer distinct advantages when trying to find the underlying cause of mitochondrial disease.

Technical advantages
Gencap^™  capture kit help cover all the mitochondrial gene.
Cost-effectively queries defined mtDNA regions based on suspected mutations
As low as 0.5% or more mutations can be detected. 
Degraded samples can be analyzed. 

Project Workflow


Sequencing Strategy
150-200 bp insert DNA library

Sequencing Depth
>5000X

Data Analysis
SNP，INDEL，Somatic SNP/InDel/CNV
Advanced analysis including Gene annotation and disease prediction

Sample Requirements
Input DNA:
For fresh sample: ≥ 1.0 ug (a minimum of 200 ng can be accepted with risk)
For FFPE sample: ≥ 1.5 ug
DNA concentration: ≥ 20 ng/ul
DNA Volume: ≥ 10 ul
OD260/280 = 1.8 - 2.0 without degradation or RNA contamination

Turnaround Time
45 working days for sequencing service and data analysis.