Mitochondrial Diseases Panel Sequencing

Mitochondrial Diseases Panel Sequencing

Description of Mitochondrial Diseases

In recent years, there has been a steady rise in cases related to mitochondria. Mitochondrial dysfunction has been found in many diseases, such as cancer, blindness, deafness, kidney disease and liver disease. Mitochondrial dysfunction is also related to aging and neurotrophic diseases, such as Parkinson’s disease and Alzheimer’s disease. Therefore, mitochondria are at the center of many diseases and have serious effects on other organs.

CD Genomics provides a predesigned panel enriches for and provides complete coverage of all 37 genes of the ~17 kb mitochondrial genome which can detect even low abundance variations accurately and efficiently to accelerate your experimental progress.

Gene List of Mitochondrial Diseases Panel

MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4
MT-ND4L MT-ND5 MT-ND6 MT-RNR1 MT-RNR2 MT-TA MT-TC MT-TD MT-TE MT-TF
MT-TG MT-TH MT-TI MT-TK MT-TL1 MT-TL2 MT-TM MT-TN MT-TP MT-TQ
MT-TR MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MT-TY      

Highlights of Mitochondrial Diseases Panel Sequencing Service

  • Target-enrichment sequencing by Illumina provides extremely high depth (average depth > 1000x) with lower costs.
  • Detect and investigate important variants with complete coverage of the entire human mitochondrial genome.
  • SNVs, indels, and even low frequency variations (≥1%) can be detected.
  • Strict quality control throughout the pipeline workflow to ensure the accuracy and repeatability of the sequencing.
  • Fast turnaround time.

Applications of Mitochondrial Diseases Panel Sequencing

  • Researches on mechanism of mitochondrial diseases
  • Biomarker discovery
  • Mitochondrial disease therapy research
  • Drug discovery against mitochondrial targets
  • Discover rare mutations and detect low frequency mutations

Service Specifications

Service Specifications

Sample Requirements

  • Sample types for genomic DNA from whole blood, tissues, saliva.
  • Recommended amount: 1μg
  • Minimum amount: 200ng
  • Collection: DNA samples are stored in TE buffer or equivalent. Blood is collected by routine blood collection and saliva is collected by saliva collection kits.
Service Specifications

Sequencing

  • Illumina PE150
  • Enrichment Method: Amplicon sequencing
  • More than 80% of bases with a ≥ Q30 quality score
  • Recommended sequencing depth: ≥ 5,000x
Service Specifications

Bioinformatics Analysis

We provide customized bioinformatics analysis including:

  • Read alignment
  • Variant calling/Annotation

Gene Panel Workflow

CD Genomics provides the accurate and cost-effective mitochondrial diseases panel sequencing and bioinformatics analysis. Our professional expert team executes quality management, following every procedure to ensure confident and unbiased results. The general workflow for mitochondrial diseases panel sequencing is outlined below.

Gene Panel Workflow

For more information about the mitochondrial diseases panel or need other amplification requirements, please contact us.

Reference:

  1. Paul S K, et al. Ultra-deep next generation mitochondrial genome sequencing reveals widespread heteroplasmy in chinese hamster ovary cells. Metabolic Engineering, 2017.
* For Research Use Only. Not for use in diagnostic procedures.

Online Inquiry
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  • 45-1 Ramsey Road, Shirley, NY 11967, USA
  • 1-631-275-3058 (USA)
           44-208-144-6005 (Europe)
  • 1-631-614-7828
  • info@cd-genomics.com
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