NCL RESOURCE - A GATEWAY FOR BATTEN DISEASE
September 2017: This page is being updated, but some information may still be out of date.
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 |
|---|---|
|
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 [email protected] | 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 [email protected] |
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 [email protected] |
An international network of diagnostic laboratories |
| Laboratory | Interests |
|---|---|
Institute of Inherited Metabolic Disorders First Faculty of Medicine, Charles University in Prague and General Faculty Hospital Prague, Czech Republic |
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 | 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 | 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 [email protected] 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 |
CLN1/PPT1 enzyme analysis CLN2/TPPI enzyme analysis pre- and postnatal |
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 |
Mutation analysis - CLN1, CLN2, CLN3, CLN6, CLN8 Samples - fibroblasts, spinal fluid |
| Laboratory | Service |
|---|---|
Department of Medical Genetics Ulleval University Hospital Kirkeveien 166, N-0407 Oslo | Mutation analysis - Samples - |
| 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 |
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 |
|---|---|
| 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 [email protected] | 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 [email protected] | 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 [email protected] or telephone +44 207 679 7257.
Last updated 16/10/2018