Mitochondrial DNA Sequencing

Human mitochondrial DNA (mtDNA), located in mitochondria, comprises 16,569 base pairs, including a forensically valuable polymorphic region, and encodes the mitochondrial 16 S and 12 S ribosomal RNAs, 22 mitochondrial tRNAs, and 13 respiratory chain proteins. Generally, mtDNA is only inherited from the mother. Mutations in mtDNA are an important cause of inherited diseases. Furthermore, the relatively high mtDNA mutation rate makes haplogroup determination and classification an important tool for paleoanthropology, population genetics, and forensic medicine. Studying mutations associated with mitochondrial disorders remains a challenge due to phenotypic variability and genetic heterogeneity among individuals. Quick Biology is offering Mitochondrial DNA sequencing (mtDNA-seq) with next-generation sequencing (NGS) technology to addresses these challenges.

Mitochondrial DNA sequencing is available on both Illumina, and PacBio System. If you need PacBio’s long reads, Quick Biology can perform 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.

Request mtDNA-Seq Quote, Click Here!

Benefits of NGS-Based Mitochondrial DNA Sequencing (mtDNA-seq):

  • - Allow dramatically faster, higher throughput, and more cost-effective sequencing compared with traditional capillary sequencing
  • - Detection of common and uncommon mitochondrial point mutations and deletions
  • - Accurate, sensitive measurement of heteroplasmy (more than one mitochondrial DNA sequence variant in each sample)
  • - Analysis of the D-loop hypervariable region (a noncoding mtDNA region that's a hotspot for genetic alterations) and/or the entire mitochondrial genome

Quick Biology mtDNA Sequencing Workflow:


Sample Requirements:

Human tissues, blood, or hair with or without roots (our advantage is we can isolate mtDNA from hair shafts!) or DNA amount: ≥ 0.5 μg

Sequencing Options:

  1. - Illumina Platform: Hiseq, iSeq, or MiSeq, PE 150, 2-5M reads per sample
  2. - PacBio Platform for long reads

Quick Biology mtDNA-seq Data Analysis:

  • - Data quality control
  • - Reference Genome mapping
  • - SNP/InDel detection, annotation, statistics
  • - mtDNA heteroplasmy detection, annotation, statistics
  • - Haplogroup determination and classification
  • - And other customized analysis

Turnaround time:

About 3-4 weeks, depends on the quality of submitted samples, one additional week for data analysis.

Request mtDNA-Seq Quote, Click Here!