Inherited skin diseases can be difficult to assess clinically and often diagnosis relies on multiple laboratory investigations. Traditionally, examination of skin biopsies is followed by biochemical testing and Sanger sequencing of genomic DNA. This approach is labour-intensive, costly and time-consuming. The advent of next-generation sequencing (NGS) methods provides an alternative or complementary approach to making […]
Tumour markers have been widely used in clinical settings for early cancer detection, diagnosis, prognosis and recurrence surveillance. Due to the growing usage, it is of vital importance to assess the performance of common tumour markers on in-vitro diagnosis instruments. In this study, the most commonly used tumour markers have been selected to evaluate the […]
The application of mass spectrometry has evolved considerably since its first use and mass spectrometric methods were initially introduced in laboratory medicine approximately 40 years ago [1]. The very recent popularity of clinical mass spectrometry can be attributed to the high specificity, accuracy and reliability due to the direct analysis of ions without the risk […]
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