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Where does my child’s sample go to confirm AADC Deficiency? Any of the laboratories below can receive samples of cerebrospinal fluid (CSF) to test for AADC Deficiency and other dopamine related diseases.
DNA analysis can only be performed in two of these laboratories. Please contact Keith Hyland at Horizon Molecular Medicine in the USA or Dr Marcel Verbeek at Radboud University in The Netherlands for further information.
A diagnosis is dependant on the correct collection of samples. Please contact the relevant scientist below for information on procedure policies.
UK Simon Heales PhD Neurometabolic Unit National Hospital Queen Square London WC1N 3 BG UK Tel: + 44 207 837 3611 ext. 3844 E-Mail: sheales@ion.ucl.ac.uk
USA (DNA Analysis Available) Keith Hyland PhD Director, Department of Neurochemistry Horizon Molecular Medicine One Dunwoody Park Suite 250 Atlanta GA 30338 USA Tel: + 1 678 597 5659 E-Mail: khyland@horizonmedicine.com
Germany Georg F. Hoffmann MD University of Heidelberg Im Neuenheimer Feld 153 69120 Heidelberg Germany Tel.: + 49 06 221 562302 Fax: + 49 06 221 564339 E-Mail: Georg.Hoffmann@med.uni-heidelberg.de
Switzerland Nenad Blau PhD Professor of Clinical Biochemistry Division of Clinical Chemistry and Biochemistry University Children's Hospital Steinwiesstrasse 75 CH-8032 Zürich Switzerland Tel.: + 41 1 266 7544 Fax: + 41 1 266 7169 Email: nenad.blau@kispi.unizh.ch
Australia John Earl PhD Head Australasian Neurochemistry Laboratory Development Biochemist, Deputy Head of Biochemistry & Research Co-ordinator for the Institute of Pathology The Children's Hospital at Westmead Locked Bag 4001 Westmead NSW 2145 Sydney Australia Tel: + 61 29 8453289 Fax: + 61 29 8453332 Email johne@chw.edu.au
The Netherlands (DNA Analysis Available) Marcel Verbeek Neurochemist Radboud University Nijmegen Medical Centre Department of Neurology Laboratory of Pediatrics and Neurology 830 LKN P.O. Box 9101 6500 HB Nijmegen The Netherlands Tel: + 31 24 3615192 / 3614567 / ext: 2309 Fax: + 31 24 3668754 Email: m.verbeek@cukz.umcn.nl
Spain Rafael Artuch or Aida Ormazabal Laboratorio de Bioquímica Hospital Sant Joan de Déu Passeig Sant Joan de Déu 2 08950 Esplugues de Llobregat Barcelona Spain Tel: + 34 93 280616900 Email: rartuch@hsjdbcn.org
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