Laboratory diagnosis and monitoring of patients with cystinuria using liquid chromatography tandem mass spectrometry
Cardiff Metropolitan University
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The Biochemistry Department at University Hospital of Wales is the regional reference laboratory for the measurement of amino acids. Currently amino acids are run on a dedicated analyzer and requires two hours for a single sample to be analysed, approximately 100 urine samples are analysed per year for cystine. Cystinuria is a rare disorder that affects transport of cystine in the kidneys and causes kidney stones and can lead to severe kidney disease if not diagnosed and treated. This disorder accounts for 1% of all patients with renal stones. A novel new method has been proposed to measure cystine in urine. The new method uses a liquid chromatograph tandem mass spectrometer (LC-MS/MS) analyser which is currently used for other metabolic assays in the department. LC-MS/MS is a powerful technique that has very high sensitivity and specificity. All samples in this study will be due for disposal, and will be anonymised before any testing takes place. The aim of this study is to evaluate the robustness of this new method in the clinical laboratory. The validation of this new method will be carried out using the Food and Drug Administration (FDA) criteria and through statistical comparisons made between the current method and the proposed method. The outcome of the study raised some issues about the stability of amino acids in urine. Stability along with the time required to condition the column limits the assays clinical utility.
BSc (Hons) Biomedical Science (Applied Biomedical Science)
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