Where does my child's sample go to confirm AADC Deficiency?
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Can any Physician or Consultant diagnose AADC Deficiency?
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Where does my child's sample go to confirm AADC Deficiency?
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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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