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Custom Mitochondrial Disease Panel

Custom Mitochondrial Disease Panel

What are mitochondrial diseases?

Mitochondrial diseases are chronic, inherited and genetic disorders that occur when mitochondria are not able to provide enough energy in cells. The diseases related to or affected by mitochondrial disorders include Parkinson’s disease, diabetes, Alzheimer’s disease, cardiac disease, hearing losing, some cancers and so forth. As the second most commonly diagnosed serious genetic disease, mitochondrial diseases affect one in 5,000 individuals worldwide. Two genomes in cells can lead to disease pathogenesis and the alterations in more than 250 nuclear mitochondrial DNA and mitochondrial DNA have been shown to cause mitochondrial dysfunction. The lack of genetic diagnoses and myriad of different symptoms make mitochondrial disease challenging.

Disease-related gene description

By 2016, there have been 36 genes from the mitochondrial genome reported to be related to mitochondrial diseases. MT-ATP6/8 encodes two of the subunits of complex V in ATP synthase. The mutation m.8561C>G in the overlapping region of MT-ATP6/8 leads to impaired assembly and decreased ATP production of complex V. Besides MT-ATP6/8, other mitochondrial genes, such as MT-CO1-3, MT-CYB and MT-TL1/2, are also associated with oxidative phosphorylation complex deficiencies in mitochondrial diseases. Moreover, pathogenic variants in nuclear genes, such as COQ2, COQ9, DNM1L and SDHAF1-4, have been reported to participate in mitochondria disorders.

To have a better understanding and support the research on genes alteration in mitochondrial diseases, our custom mitochondrial disease panel platform offers a comprehensive panel library from which you can choose for genetic testing of mitochondrial diseases. We provide targeted DNA sequencing technology to efficiently identify alterations in genomic and mitochondrial DNA among the mitochondrial diseases that relate genes of interest. Our service will help researchers mine accurate and meaningful data from the samples and accelerate research development.

Custom mitochondrial disease panel offers but are not limited to:

  • Targeted DNA sequencing technology of the Illumina MiSeq is a highly targeted approach that helps researchers analyze genetic variants accurately in genomic regions or particular mitochondrial regions.
  • Customizable mitochondrial disease panel meets your requirements more specifically and saves your cost at the same time.
  • Further validation will be applied to each detected variant.
  • To ensure accuracy and repeatability, strict quality control will be followed all the time.
  • Custom panel content is designed to follow the updated publications on mitochondrial diseases to target all relevant regions.
  • Besides the panel content from our library, we can provide your own panel with your special requirements.

Choose the genes that suit you from the mitochondrial disease gene list

Mitochondrial DNA (mtDNA)

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-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

Genomic DNA (gDNA)

ABCB7 ACAD9 ACADM ACADS ACADVL ACAT1 APTX ASS1
ATPAF2 BCKDHA BCKDHB BCS1L COQ2 COQ8A COQ9 COX10
COX15 COX4I2 COX6B1 CPT1A CPT2 CYCS DARS2 DBT
DGUOK DLAT DLD DNAJC19 DNM1L ETFA ETFB ETFDH
ETHE1 FASTKD2 FBXL4 FH FOXRED1 GFER GFM1 HADH
HADHA HADHB HMGCL HMGCS2 HSPD1 ISCU LARS2 LRPPRC
MCCC2 MFN2 MPV17 MRPS16 MRPS22 NDUFA1 NDUFA11 NDUFA2
NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFS1 NDUFS2 NDUFS3
NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NUBPL OPA1
OPA3 OXCT1 PC PCK2 PDHA1 PDHB PDHX PDP1
PDSS1 PDSS2 POLG POLG2 PREPL PUS1 RARS2 RRM2B
SCO1 SCO2 SDHAF1 SDHB SDHC SDHD SLC22A5 SLC25A13
SLC25A15 SLC25A19 SLC25A20 SLC25A22 SLC25A3 SLC25A4 SLC3A1 SPG7
SUCLA2 SUCLG1 SUOX SURF1 TAZ TIMM8A TK2 TMEM70
TRMU TSFM TUFM TWNK TYMP UQCRB UQCRQ WFS1

Sample types and requirements of our custom panel

  • Specimen: whole blood, saliva or extracted DNA.
  • Volume: 2-4 mL whole blood, 2 mL saliva or minimum 1 μg DNA.
  • Collection: blood is collected by routine blood collection and saliva is collected by spitting into the provided container. DNA samples are stored in TE, AE buffer or pure sterile water.
  • Container: lavender-top (EDTA) tube or yellow-top (ACD) tube.

Gene panel workflow

Gene panel workflow

For more information about the Custom Mitochondrial Diseases Panel or need other amplification requirements, please contact us.

References:

  1. Craven, L., et al. Recent Advances in Mitochondrial Disease. Annual Review of Genomics and Human Genetics, 2017. 18:257–75.
  2. Alston, C.L., et al. The genetics and pathology of mitochondrial disease. Journal of Pathology, 2017; 241: 236–250.
  3. Yi Shiau Ng and Doug M. Turnbull. Mitochondrial disease: genetics and management. Journal of Neurology, (2016) 263:179–191.
* For Research Use Only. Not for use in diagnostic procedures.

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