Sirona Dx offers Next Generation Sequencing (NGS), using the Ion Proton and Ion PGM systems. Our scientists leverage the powerful Ion Torrent TM sequencing technology to generate large amounts of high quality sequencing data including from challenging clinical samples such as FFPE.
Ion Torrent Next Generation Sequencing (NGS) utilizes a semiconductor-based, sequencing-by-synthesis technology and emulsion PCR (emPCR) similar to other platforms. It measures the H+ ions released during base incorporation.
Bases of small fragments of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a DNA template strand. NGS extends this process across millions of reactions in a massively parallel fashion, rather than being limited to a single or a few DNA fragments. This advance enables rapid sequencing, or large stretches of DNA base pairs spanning entire genomes, with the latest instruments capable of producing many gigabases of data in a single sequencing run.
For example, consider a single genomic DNA (gDNA) sample. The gDNA is first fragmented into a library of small segments that can be uniformly and accurately sequenced during millions of parallel reactions. The newly identified strings of bases, called reads, are then reassembled using a known reference genome as a scaffold (resequencing) or in the absence of a reference genome (de novo sequencing).
Sirona Dx is an Ion Torrent Certified Service Provider, offering an extensive suite of Next Generation Sequencing capabilities with the Ion PGM and Proton systems.Targeted sequencing enables the interrogation of specific genomic regions in a high throughput and cost-effective manner.There are a number of applications for targeted sequencing, including the detection of various genetic aberrations such as single-nucleotide polymorphisms (SNP's), insertions and deletions (indels), copy number variants (CNV's), and genetic rearrangements. Some applications include cancer genomics, cancer mutation analysis, and genetic disease/disorder research - including analysis of FFPE (formalin-fixed paraffin-embedded) tissue samples.Ion AmpliSeq ready-to-use targeted primer panels, or custom-designed panels, contain primer pairs that are specifically designed to flank regions of interest for polymerase chain reaction (PCR) amplification with as low as 10 ng of input DNA.
Sirona Dx CLIA Laboratory is a Life Technologies certified service provider for Ion Ampliseq Exome Sequencing. This certification indicates that the sequencing data generated by our laboratory meets a high quality standard. Using the Ion Proton platform and its straightforward technical approach also allows for a rapid turnaround time.
Recent advances in next generation sequencing have enabled scientists to explore massive quanities of genomic data. The exome represents only one percent of the total human genome, however the majority of disease-causing mutations are found within this region.
Exome sequencing has enhanced our understanding of the role of genetics in disease leading to a more personalized approach to medicine.Key areas where exome sequencing is transforming clinical research include:
Our Laboratory offers SNP Genotyping (single-nucleotide polymorphism) services using the Quant Studio Real-Time PCR instrumentation. This platform not only detects the amount of fluorescence through each cycle of polymerase chain reactions, it confidently distinguishes between more ambiguous genotypes. The instrument provides high sensitivity with lower DNA input, accurate analysis of the results, and faster turnaround time.
Our team uses Taqman assays to perform SNP genotyping. These asays are mixtures of allele-specific primers and minor groove binding probes that identify polymorphisms by generating a fluorscent signal to indicate the presence of either or both targeted alleles.SNP genotyping applications include;