Instruments for measuring quantities

Tender description

University Hospital Southampton (UHS) in collaboration with the University of Southampton and Wessex regional Genetics laboratory (WRGL — Salisbury NHS Foundation Trust) has established a clinical exome sequencing pipeline. This is based in the Wessex Investigational Sciences Hub (WISH) at UHS. The pipeline is being used to investigate a wide range of inherited genetic diseases, which are individually rare but together affect the lives of over 3 000 000 people in the UK. 75 percent of rare diseases affect children and thus have an enormous impact on the well-being of families. University Hospital Southampton (UHS) in collaboration with the University of Southampton and Wessex regional Genetics laboratory (WRGL — Salisbury NHS Foundation Trust) has established a clinical exome sequencing pipeline. This is based in the Wessex Investigational Sciences Hub (WISH) at UHS. The pipeline is being used to investigate a wide range of inherited genetic diseases, which are individually rare but together affect the lives of over 3 000 000 people in the UK. 75 percent of rare diseases affect children and thus have an enormous impact on the well-being of families. We would like to further improve access and speed of diagnosis for our rare disease patients by employing a more automated procedure using robotics to perform part of the test procedure. Automation of this procedure will provide a number of important benefits aside from dramatically increased throughput including; greater reproducibility and robustness of the procedure and guaranteed sample tracking via barcoding. These benefits add up to more accurate testing, significant per-diagnosis cost savings and greater equity of access to tests for patients with rare-diseases.