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

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.

Sequencing

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

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:

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.