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BIOCHEMISTRYSupervisor:
Dr. R. Rodenburg Tel: +31 24 3614818 E-mail: R.Rodenburg@cukz.umcn.nl Laboratory of Genetic, Metabolic and Endocrine Disorders Technical assistance: Gera Backx Karina Horsting-Wethly Antoon Janssen Karen Janssen Antonia Kappen Theo van Lith Berendien Stoltenborg Diana Vermunt Liesbeth Wintjes Tel: +31 24 3614428 Secretary: Conny de Haas-Martens Patricia Lochtenberg Tel: +31 24 3614428 General information: In 1975, our laboratory started the study of the origins of mitochondrial myopathies with 3 employees. In the first years 20 to 30 muscle biopsies from patients suspected from a mitochondrial myopathy were examined each year. Nowadays, we examine more than 500 samples each year. The experience and knowledge about functioning and disfunctioning of mitochondria in health and disease that we have build up in the past decades is applied to the diagnostic analysis of new patients in our center every day. Laboratory tests: The biochemical laboratory offers a broad diagnostic package for the functional analysis of the mitochondrial energy generating system in different types of tissue samples. Analysis of a fresh muscle biopsy is regarded to be the golden standard in the diagnostics of mitochondrial disorders. In a freshly collected muscle sample, the overall activity of the energy generating system is evaluated by measurements of the rates of oxidation of several 14C-labelled substrates, and production of ATP from the oxidation of pyruvate + malate. In addition, activities of single enzymes from the respiratory chain, complex V and PDHC are measured in fresh muscle biopsies. In frozen muscle biopsies (and biopsies from other tissues) only single enzyme activities can be measured. In fibroblasts both the overall capacity of the energy generating system and single enzymes can be measured. Should the diagnostic results give cause for this, several additional laboratory tests are available that are performed on research base. In certain cases we can also offer prenatal diagnostics for PDHC and the respiratory chain enzymes complex l and complex lV. For more information, please inquire. Diagnostic request forms: Please use this form when sending us samples for diagnostic analysis: Request form (English version) Request form (Dutch version) Shipping and Handling of samples: - Sending a fresh muscle biopsy - Sending a frozen muscle biopsy (or other tissues) - Sending fibroblasts - Sending chorionic villi Reporting of results: A written report concerning the biochemical studies performed in skeletal muscle will, in general, be supplied within 3 months. Depending on the growth characteristics, results of fibroblast biochemical analysis will, in general, be reported within 3 months. Billing: In accordance with the Dutch regulations for enzyme diagnostics. For details please contact our secretary (Tel: +31 24 3614428). | ||
