Diagnostic Laboratories

Fast and accurate diagnosis of NCL and NCL type is important. The diagnostic approach has changed recently with the advent of tests specific for the function of some NCL genes. This page provides a list of laboratories, organised by country, providing a range of diagnostic services relevant to the NCLs.

Europe

United Kingdom

Laboratory Service
Great Ormond Street Hospital Laboratory Medicine
Enzyme Unit
Chemical Pathology
Camelia Botnar laboratories
Great Ormond Street Hospital, London WC1N 1EH
Tel: +44 207 405 9200 X5290
Fax: +44 207 829 8624
Derek.Burke@gosh.nhs.uk
CLN1/PPT1 enzyme analysis
CLN2/TPPI enzyme analysis
Samples - blood, skin biopsy, cell lines
CLN10/CTSD enzyme analysison skin biopsy and cell lines
Prenatal testing
Supraregional Laboratory for Genetic Enzyme Defects
5th Floor Tower Wing, Guys Hospital
Great Maze Pond, London SE1 9RT
Tel: +44 20 71882591
Fax: +44 20 71887275
marie.jackson@gosh.nhs.uk

CLN1/PPT1 enzyme analysis
CLN2/TPPI enzyme analysis
CTSD/CLN10 enzyme analysis (in progress)
Full mutation analysis - CLN1/PPT1, CLN2/TPP1, CLN3, CLN5, CLN6, CLN7, CLN8, CLN10/CTSD
Samples - blood, skin biopsy, cell lines, amniotic fluid cells, chorionic villus

NE Thames Regional Genetics Service
Laboratories for Cytogenetics and Molecular Genetics
Great Ormond Street Hospital for Children
York House , 37 Queen Square, London WC1N 3BH
Tel: +44 20 7829 8870
Director: Nicholas Lench
cmg@gosh.nhs.uk

Mutation analysis - CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8
CLN1 - testing for common mutations and full sequencing on biochemically confirmed samples
CLN2 - testing for common mutations and full sequencing on biochemically confirmed samples
CLN3 - 1 kb deletion test, full sequencing
CLN5, CLN6, CLN7, CLN8 - full sequencing
Samples - blood, cell lines, DNA
Information for Health Professionals

Histopatholgy Unit
Great Ormond Street Hospital
London
Tel: +44 207 829 8663
Fax: +44 207 813 1170
Mr Glenn Anderson

Electron microscopy for all NCL types
Samples - blood, skin biopsy, chorionic villus


UK Genetic Testing Network
Diagnostic Mutation Database (DMuDB)
British Inherited Metabolic Disease Group
British Paediatric Surveillance Unit - Progressive Intellectual and Neurological Deterioration

Belgium

Laboratory Interests
Gendia: GENetic DIAgnostic Network
Dr Patrick Willems
Emiel Vloorsstraat 9
2020 Antwerp, Belgium
patrick.willems@genetic-diagnostic.net

An international network of diagnostic laboratories
Mutation analysis - CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, CLN10

The Czech Republic

Laboratory Interests
Drs Milan Elleder, Lenka Dvorakova, Stan Kmoch, Helena Poupetova
Institute of Inherited Metabolic Disorders
First Faculty of Medicine, Charles University in Prague and General Faculty Hospital
Prague, Czech Republic
melleder@beba.cesnet.cz
Tel: +1 420 224967689
ldvor@lf1.cuni.cz
skmoch@lf1.cuni.cz
hpoup@lf1.cuni.cz
kostalova.eva@vfn.cz

CLN1/PPT1 enzyme analysis
CLN2/TPPI enzyme analysis
Mutation analysis - CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, CLN10
Samples - blood, cell lines, DNA

Denmark


Laboratory Service
Department of Clinical Genetics (Aarhus)
Aarhus University Hospital, The Bartholin Building
Wilmhelm Meyers Allé, DK-8000 Aarhus C.
Tel: +45 8949 4358
Fax: +45 8949 4370
Dr Lillian Gryesten Jensen
Mutation analysis -
Samples -

Finland


Laboratory Service
HUSLAB, Laboratory of Molecular Genetics
Obstetric Hospital, Haartmaninkatu 2, C-wing, 5th floor
POB 140, FI-00029 HUS, Helsinki
Tel: +358 9 471 75905
Fax: +358 9 471 74001
Dr Irma Järvelä
Mutation analysis -
Samples - blood, DNA, cells

Germany



Laboratory Service

Dr Angela Schulz
Department of Pediatrics
University Medical Center Hamburg-Eppendorf
Martinistr. 52, D-20246 Hamburg
an.schulz@uke.uni-hamburg.de
Tel: +49-40-42803-3710 / -3733

Incorporating:
Metabolic Diagnostics Laboratory
info@ncl-netz.de
Institute for Human Genetics
Prof Andreas Gal

Enzyme analysis - CTSD, CLN1/PPT1, CLN2/TPPI
Samples - skin fibroblasts, leucocytes, dried blood spots
Mutation analysis - CTSD, CLN1, CLN2, CLN3, CLN5, CLN6, CLN8
Molecular genetic screening - CLN3 common 1 kb deletion
Samples - blood, dried blood spots
Dr Robert Steinfeld
Metabolic Laboratory, Room 1D3 640
Department of Pediatrics
Robert-Koch-Str. 40, 37075 Göttingen
ncl@med.uni-goettingen.de
Tel: +49-551-398035

Enzyme analysis - CTSD, CLN1/PPT1, CLN2/TPPI
Samples - skin fibroblasts, leucocytes, dried blood spots
Mutation analysis - CTSD, CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, ARSG
Molecular genetic screening - CLN3 common 1 kb deletion
Samples - blood
Electron microscopy for all NCL types

Italy


Laboratory Service
Molecular Medicine and Neurology
IRCCS Bambino Gesà Hospital
Piazza S. Onofrio, 4; 00165 Rome
+39 0668592104
Dr Filippo Santorelli
CLN1/PPT1 enzyme analysis
CLN2/TPPI enzyme analysis
Mutation analysis - CLN2, CLN3, CLN6, CLN7, CLN8

The Netherlands

Laboratory Service
Department of Clinical Genetics, Enzyme Unit
Erasmus MC, Ee 2402, Dr. Molewaterplein 50
3015 GE Rotterdams
Tel: +31 10 408 7224
Dr Otto P van Diggelen
CLN1/PPT1 enzyme analysis
CLN2/TPPI enzyme analysis
pre- and postnatal
Prof E. Bakker
Department of Clinical Genetics
Leiden University Medical Centre
Wassenaarseweg 72
NL-2333 AL Leiden
Tel: +31 71 527 60 82
Fax: +31 71 527 16 01
dna@lumc.nl
Mutation analysis - CLN1, CLN2, CLN3, CLN6, CLN8
Samples - fibroblasts, spinal fluid

Norway

Laboratory Service
Dr Kàre Berg
Department of Medical Genetics
Ulleval University Hospital
Kirkeveien 166, N-0407 Oslo
Tel: +47 22 119860
Fax: +47 22 119899
Mutation analysis -
Samples -

Russia

Laboratory Service

Research Centre for Medical Geneics
Moscow, Russia
Dr Anna Bukina

CLN1/PPT1 enzyme analysis
CLN2/TPPI enzyme analysis
Mutation analysis - CLN1, CLN2, CLN3
Samples -

Spain

Laboratory Service
Laboratory of Molecular Biology - Hospital Clinic
c/ Villarroel 170
E-08036 Barcelona
Tel: +34 93 2275400 ext 2784/3406
Fax: +34 93 4515272
Dr Montserrat Milà
Mutation analysis -
Samples -

Sweden

Laboratory Service
Neurochemistry, Laboratory of Medicine/Clinical Chemistry
Sahlgren's Univeristy Hospital
Molndal SE-431 80 Molndal
Tel: +46 31 343 2407/1000
Fax: +46 31 343 2426
Prof Jan-Eric Månsson
CLN1/PPT1 enzyme analysis
CLN2/TPPI enzyme analysis
Cell markers to follow neurodegeneration
Samples - fibroblasts, spinal fluid
Department of Clinical Genetics
Sahlgrenska University Hospital / East
416 85 Göteborg
Tel: +46 31 343 4802
Dr Eva Holmberg (clinical geneticist, paediatrician)
Tel: +46 31 343 5728
Dr Mihailo Vujic (clinical geneticist, paediatrician)
Tel: +46 31 343 4757
Eva Björck (clinical molecular geneticist)
Mutation analysis - CLN3 1 kb deletion
Samples - blood or extracted DNA
Department of Ophthalmology, University Hospital, Lund
Dr Sten Andréasson
Ophthalmology

Useful Links

European Directory of DNA Diagnostic Laboratories

GENDIA (Genetic Diagnostics Network)

 

North America

Canada

Laboratory Service
Molecular Genetics Laboratory
Hospital for Sick Children
555 University Ave, Roy C Hill Wing Rm 3-420
Toronto, ON, M5G 1X8
Tel: +1 416 813 6590
Fax: +1 416 813 7732
Co-ordinator
Mutation analysis - common mutations in CLN1, CLN2, CLN3
Mutation analysis - CLN1, CLN2, CLN3, CLN5, CLN6, CLN8

USA

Laboratory Service
Neurogenetics DNA Diagnostic Laboratory
Massachusetts General Hospital
185 Cambridge Street, 5th floor, Suite 5300
Boston, MA 02114
Tel: +1 617 726 5721
Fax: +1 617 724 9620
NCL Coordinator
Mutation analysis - CTSD, CLN1, CLN2, CLN3, CLN5, CLN6, CLN7 CLN8, CLCN3, CLCN6, CLCN7
Batten Disease Diagnostic and Clinical Research Center
Division of Pediatric Neurology
University of Rochester Medical Center
601 Elmwood Avenue, Box 631
Rochester NY 14642
Tel: +1 585 275 4762
Batten@urmc.rochester.edu
Mutation analysis - CLN1, CLN2, CLN3
All Children's Hospital Department of Pathology and Laboratory Medicine
Molecular Genetics Laboratory, Department of Pathology
All Children's Hospital
601 Fifth St South
St Petersburg, FL 33701
Tel: +1 727-767-8985
coovadiaa@allkids.org
Mutation analysis - CLN1

Useful Links

GeneTests

South America

Argentina

Laboratory Service

Prof. Dra. Inés Noher de Halac
Universidad Nacional de Córdoba
Centro de Estudio de las Metabolopatías Congénitas (CEMECO)
Hospital de Niños
Ferroviarios 1250, 5014 Córdoba
Tel: +54 351 4575974
Fax: +54 351 4586439
nclcemeco@nclcemeco.com.ar

CLN1/PPT1 and CLN2/TPPI enzyme analysis (including dried blood samples)
Mutation analysis - CLN3 and CLN6

Australasia

Australia

Laboratory Service
National Referral Laboratory
Dept of Genetic Medicine
4th Floor, Rogerson Building
Children, Youth and Women's Health Service
72 King William Road
North Adelaide  SA  5006
Tel: +61 8 8161 8062
Fax: +61 8 8161 7100
Dr Michael Fietz

CLN1/PPT1 and CLN2/TPPI enzyme analysis
Mutation analysis - CLN1, CLN2, CLN3 (1 kb test and full sequencing)

New Zealand