Next Generation Sequencing (NGS)

sequencing machine

Our Next Generation Sequencing (NGS) facility launched in 2013.

The vision for the facility is to provide NGS diagnostic services to the NHS and support local research projects in a cost effective and quality driven way within a CPA accredited laboratory. This will deliver a better service for patients and researchers within Yorkshire and Humber and beyond.

The facility is supported by partners across Sheffield and has three NGS systems: an Illumina MiSeq and HiSeq 2500, and a Life technologies Ion PGM™. Further platforms are expected to be added in the future.

It is open to researchers and clinical trials alongside diagnostics and we welcome discussions about how the laboratory can help support your project needs. Please contact us for further information.

NGS services – diagnostic

We currently have NGS services that cover 147 genes sub-divided into 19 panels and subpanels in the areas of the connective tissue disorders, inborn errors of metabolism, hereditary cancers, neurodegenerative disorders and Fanconi anaemia. Details of these services are given in the document below:

If you wish to explore any further clinical developments please contact us to discuss how we could help.

NGS services – research

The facility is open to researchers undertaking either basic research or clinical trials. We welcome discussions about how the laboratory can help support the needs of both small and large projects.

We are able to offer a complete sequencing service including library preparation and sequencing or we can just sequence your prepared libraries.

We have experience in preparing a wide variety of both RNA and DNA libraries, including whole exome, stranded RNA and small RNA. We continue to expand our repertoire of library types and should be able to accommodate most requests.

We offer a range of Next Generation Sequencing machines with either the Ion PGM or MiSeq being used for small and rapid sequencing projects, or the HiSeq 2500 for medium and large scale projects.

If you wish to discuss any upcoming research projects please contact Emilie Jarratt.

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