Polymerase Chain Reaction (PCR) equipment

Tender description

Lothian Health Board's, Cytogenetics Laboratory department provides molecular karyotyping services to the local population (approximately 1 300 000 in the South East of Scotland Region). NHS Lothian seeks to procure a digital PCR system to support the diagnostic service from the Genetics Laboratory at the Western General Hospital as part of the Scottish Genetics consortium. There are a total of 4 Regional Genetics Services in Scotland of which Glasgow and Edinburgh are the largest. The 4 centres provide a comprehensive genetics service to the whole of Scotland. The majority of the Edinburgh Molecular Genetics Service's work is offered nationally (Scotland) with some services offered under the UK Genetic Testing Network (UKGTN) to the UK and Europe. The South East of Scotland Genetics Service receives samples from approximately 300 Consultants at over 1 hundred referring centres. The Cytogenetic laboratory handles over 7 000 referrals, performing over 3 500 complex molecular cytogenetic analyses annually. The South East of Scotland Genetics laboratory is involved in the diagnosis of constitutional inherited disorders and cancer genetics. Current diagnostic testing for a large number of cytogenetic referrals involves the assessment of copy number imbalances using array comparative genomic hybridisation (array CGH). Digital PCR will be used to validate copy number status. This proposal for the purchase of a digital PCR system will have several important benefits: Allow the analysis of copy number changes in samples with low starting concentrations of DNA such as those from amniotic fluid, chorionic villi, cultured cells, bone marrow, tissue biopsy, mouth wash, plasma and lymphocytes. Replace qPCR in some instances leading to an increase in sensitivity of detection by up to 50 fold. It will provide a platform to offer services that are not practical using FISH, particularly when only DNA is available as a starting material. It will increase the testing capacity and extend the testing repertoire of the laboratory.