Initially, DNA analysis was restricted to the identification of inborn errors of disease and was performed in clinical genetic centres. Nowadays, DNA analysis is increasingly used also in clinical chemistry as biomarkers for detecting haemostatic parameters, hereditary hemochromatosis, hemoglobinopathies, and the classification and treatment of hematologic malignancies. Specifically the use of DNA analysis to explain, and to predict response to medication (Pharmacogenetics) is taking an increasingly important role. In addition, the identification of cell free DNA, detecting drug therapy resistance mutations (like EGFR p.T790M for lung cancer) is a new and rapidly evolving field to drug treatment. New horizons will expectedly soon open with the availability of advanced sequencing technology, pertaining to the analysis of small (amplified) fragments to the whole genome (WGS).

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Keywords Haemoglobinopathy, Haemostatic parameters, Hematologic malignancies, Hereditary hemochromatosis, Pharmacogenetics
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van den Broek, D. (Daan), Vermeer, E. (Eric), Swinkels, D.W, & van Schaik, R.H.N. (2017). Molecular diagnostic testing in clinical chemistry. In Molecular Diagnostics: Part 2: Clinical, Veterinary, Agrobotanical and Food Safety Applications (pp. 131–154). doi:10.1007/978-981-10-4511-0_7