Abstract
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).
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Further Reading and References
Aillaud MF, et al. Resistance to activated protein C-diagnostic strategy in a laboratory of haemostasis. Tromb Haemost. 1995;74:1197–207.
Bertina RM, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994;369:64–7.
European Association For The Study Of The Liver. EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol. 2010 Jul;53(1):3–22.
Evans DAP, et al. Genetic control of isoniazid metabolism in man. Br Med J. 1960;2:482.
Evans DAP. An improved and simplified method of detecting the acetylator phenotype. J Med Genet. 1969;6:405–7.
Feder JN, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13:399–408.
Feder JN, et al. The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. J Biol Chem. 1997;272:14025–8.
Grandone E, et al. Factor V Leiden, C.T MTHFR polymorphism and genetic susceptibility to pre-eclampsia. Thromb Haemost. 1997;77:1052–4.
Koeleman BPC, et al. Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood. 1994;84:1031–5.
Mandel P, et al. Les Acides Nucleiques de plasma sanquin chez l’homme. C.R. Seances Soc Biol Fil 1948 Feb;142(3–4):241.
Moderne Vogel F, der Humangenetik Probleme. Ergebn Inn Med Kinderheilkd. 1959;12:52–125.
Nederlandse Richtlijn voor de Diagnostiek en behandeling van hereditaire hemochromatose 2007. http://www.internisten.nl/uploads/AL/FJ/ALFJChidQ2OgF7uax8yh1w/richtlijn_2007_Hemochromatose.pdf.
Porto G, et al. EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). Eur J Hum Genet. 2016 Jul 8;24:479–95. doi:10.1038/ejhg.2015.128.
Schaeffeler E, et al. Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants. Pharmacogenetics. 2004 Jul;14(7):407–17.
Sequist LV, et al. Genotypic and histological evolution of lung cancers acquiring resistance to EGFR inhibitors. Sci Transl Med. 2011;3(75).
Sim SC, et al. A common novel CYP2C19 gene variant causes ultrarapid drug metabolism relevant for the drug response to proton pump inhibitors and antidepressants Clin Pharmacol Ther. 2006 Jan;79(1):103–13.
Swen JJ, et al. Pharmacogenetics: from bench to byte–an update of guidelines. Clin Pharmacol Ther. 2011 May;89(5):662–73. doi:10.1038/clpt.2011.34. Epub 2011 Mar 16.
van Dongen JJ, et al. Prognostic value of minimal residual disease in acute lymphoblastic leukaemia in childhood. Lancet. 1998;352:1731–8.
van Bokhoven MA, et al. Diagnosis and management of hereditary haemochromatosis. BMJ. 2011 Jan 19;342:c7251.
Vogelstein B, et al. Digital PCR. Proc Natl Acad Sci. USA 1999;96:9236–41.
Weinshilboum RM, Sladek SL. Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am J Hum Genet. 1980 Sept;32(5):651–62.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2017 Springer Nature Singapore Pte Ltd.
About this chapter
Cite this chapter
van den Broek, D., Vermeer, E., Swinkels, D., van Schaik, R.H.N. (2017). Molecular Diagnostic Testing in Clinical Chemistry. In: van Pelt-Verkuil, E., van Leeuwen, W., te Witt, R. (eds) Molecular Diagnostics. Springer, Singapore. https://doi.org/10.1007/978-981-10-4511-0_7
Download citation
DOI: https://doi.org/10.1007/978-981-10-4511-0_7
Published:
Publisher Name: Springer, Singapore
Print ISBN: 978-981-10-4510-3
Online ISBN: 978-981-10-4511-0
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)