Development and implementation of regional platelet diagnostic laboratory in order to enhance the diagnosis and treatment of inherited platelet function disorders

摘要

This project sets out to create a reference laboratory service capable of detecting platelet function disorders using the latest techniques and based on the most current research. Platelet function disorders are difficult to diagnose due to differing phenotypic presentation and multiple causative agents. Platelet research has moved rapidly over the past decade and has included new reagents, analysers and techniques in the way platelet function disorders are diagnosed. A forward-looking diagnostic laboratory needs translate this ongoing research into routine laboratory practice, whilst ensuring that techniques used in the laboratory comply with the current guidelines and performed in a standardised and scientifically rigorous way. Literature searches were used to develop a pre-analytical questionnaire and this has been adopted. It has proved to be an important tool for standardisation of the pre-analytical procedure which is now in use at other diagnostic centres. New light transmission aggregation equipment and agonists have been introduced, standardised and reference ranges generated, driven by evidence based practice. Reagent comparison studies have been undertaken to asses’ cost-effectiveness of the assays in the laboratory. Platelet nucleotide reference ranges have been generated and are in use. The flow cytometric analysis of glycoproteins has been brought ‘in-house’, has been standardised, and is now being offered as a routine assay to specialist haematology clinical staff, improving the service the laboratory offers. This work has enabled an extended range of assays available to the laboratory and now has capacity for specialist testing of inherited platelet disorders. This together with expert clinical staff creates the scientific and technical environment required for the establishment of a specialist regional referral centre. The reputation of the laboratory has been additionally enhanced, through presentations and collaborations with manufacturers, other healthcare scientists and professional bodies. All these improvements based on strong scientific research and rigorous application have enabled the patient to undergo a thorough investigation with the minimum of inconvenience and enabled the health care provider to utilise resources more effectively.