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Custom NGS Panel
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

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

References:

Craven, L., et al. Recent Advances in Mitochondrial Disease. Annual Review of Genomics and Human Genetics, 2017. 18:257–75.
Alston, C.L., et al. The genetics and pathology of mitochondrial disease. Journal of Pathology, 2017; 241: 236–250.
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.