Laboratory reagents

Tender description

This is bespoke genetic testing kit developed for the laboratory at Nottingham University Hospitals (NUH) and validated by the NUH laboratory to provide a service for hereditary cancers and other none cancer hereditary disorders. In total 38 genes are targeted and this kit allows sequencing of these genes. In addition to supplying the kit, Sophia Genetics also allows access and use of the bioinformatics pipeline which allows analysis of the sequencing data and copy number data. NUH believe only Sophia Genetics are able to provide this type of genetic testing kit. This is bespoke genetic testing kit developed for the laboratory at Nottingham University Hospitals (NUH) and validated by the NUH laboratory to provide a service for hereditary cancers and other none cancer hereditary disorders. In total 38 genes are targeted and this kit allows sequencing of these genes. In addition to supplying the kit, Sophia Genetics also allows access and use of the bioinformatics pipeline which allows analysis of the sequencing data and copy number data. NUH believe only Sophia Genetics are able to provide this type of genetic testing kit. Next generation sequencing is a relatively new technique for sequencing genes and finding changes that may be clinically significant. However this technique also requires algorithms to analyse the huge amount of sequencing data for which algorithms needs to be developed by a bioinformatician. At the time of the validation 2- 3 years ago Sophia Genetics was the only company willing to collaborate in the development of a bespoke sequencing kit, training of staff and provide a bioinformatics pipeline for the analyses of the data. In addition this kit and the bioinformatics pipeline allows for the detection of copy number variation in the gene and even now there not an equivalent product on the market. An equivalent kit containing this set of genes and the bioinformatics package for sequencing and copy number analyses is not available as far as Nottingham University Hospitals are aware.