NCL RESOURCE - A GATEWAY FOR BATTEN DISEASE
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.
| Laboratory | Service |
|---|---|
Enzyme Laboratory | CLN1/PPT1 enzyme analysis |
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 |
| NE Thames Regional Genetics Service | Mutation analysis - CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8 |
Histopatholgy Unit | Electron microscopy for all NCL types |
| 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 |
| 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 |
| 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 - |
| 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 |
| Laboratory | Service |
|---|---|
Dr Angela Schulz Incorporating: | 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 |
| 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 |
| 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 |
| 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 - |
| Laboratory | Service |
|---|---|
Research Centre for Medical Geneics |
CLN1/PPT1 enzyme analysis |
| 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 - |
| 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 |
European Directory of DNA Diagnostic Laboratories
GENDIA (Genetic Diagnostics Network)
| 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 |
| 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 |
| Laboratory | Service |
|---|---|
Prof. Dra. Inés Noher de Halac |
CLN1/PPT1 and CLN2/TPPI enzyme analysis (including dried blood samples) |
| 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 |
'NCL Resource' is maintained by Sara Mole.
MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London. WC1E 6BT. United Kingdom.
If you have comments or suggestions or details for inclusion, email ncl-www@ucl.ac.uk or telephone +44 207 679 7257.
Last updated 23/1/2013