The VariantPro targeted sequencing system offers cost-effective, minimal hands-on, ultra-high resolution sequence analysis, that enables accurate detection of rare variants. It utilizes novel and patent pending Relay-PCR™ and Omega-Primer™ technologies.
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Technical
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The mitochondrial genome is a circular DNA molecule which is distinct from the nuclear genome. In humans, it’s about 16 kb long and encodes 37 genes. Mitochondrial disorders arise as a result of dysfunction of the mitochondrial respiratory chain, and often times, these are caused by mutations of genes encoded by mitochondrial DNA (mtDNA). Because there is considerable clinical variability between mitochondrial disorders and many patients who exhibit phenotypes that overlap diseases, often diagnosis may only be confirmed by identification of a pathogenic mtDNA variant through molecular genetic testing of DNA extracted from a blood sample.
| Description | The assay kit contains all the reagents required for capture of the entire human mitochondrial DNA genome and library preparation for next-gen sequencing |
Assay Time | 4-6 hours | |
| Capture Method | The VariantPro™ system incorporates novel Relay-PCR™ and Omega Primer™ technologies to form a one-step multiplex PCR based workflow. |
Hands-on Time | 5 minutes | |
| Amplicon Coverage |
Designed for 100% amplicon coverage of all regions of the mitochondrial genome (16,569 bp) |
Sequencing Platform | Illumina | |
| Amplicon Length | Average 200 bp | Multiplexing Capability | Up to 3024 samples in one lane | |
| Primer Pools |
110 pairs of primers in 2 primer pair pools | Coverage Uniformity | > 99% at 0.2 x mean | |
| Input DNA Required | 1-5 ng human genomic DNA per reaction tube (2) – depending on the DNA quality |
Dropout Rate | 0 |
Assay Performance
Coverage uniformity: > 99.1 % of amplicons detected at > 0.2X mean coverage. The lowest and highest covered amplicons varied within only 1.35 log at 2500 read depth
The detected mutation frequencies matched closely to the actual mixing frequencies of spike-in variant genome.
More performance data can be found here – Technical Note – Performance of the VariantPro Mitochondrial Panel