Testing for Batten Disease

Diagnostic, carrier and prenatal testing is available for Infantile, Classic Late Infantile, Variant Late Infantile (CLN6), Juvenile Batten Disease, Finnish Late Infantile (CLN5) and EPMR (CLN8).

Diagnosis can be done by electronmicroscopy of tissue or blood for all forms of NCL/Batten disease or DNA testing for those forms of NCL for which the genes have been identified. Diagnosis of Infantile and Classic Late Infantile can also be done by enzyme assay from blood. Molecular Diagnosis is an available option.

DNA carrier testing can be done from a blood sample. DNA prenatal testing is done by amniocentesis or CVS.

Persons wishing information or to have any form of testing done can contact one of the labs listed below direct or BDSRA at 1-800-448-4570 ( USA & Canada ) or 740-927-4298 (outside USA & Canada ) or email: bdsra1@bdsra.org

BDSRA urges utilizing the services of a genetic counselor. If you need a genetic counselor contact BDSRA and one will be recommended.

The decision to do any kind of testing is up to the individual or family. BDSRA will help to make some arrangements and help locate a genetic counselor, if one is requested. The results of any testing are confidential and BDSRA will have no knowledge of test results. BDSRA cannot pay for any testing.

DNA Diagnosis, Carrier and Prenatal

Neurogenetics DNA Diagnostic Laboratory
Massachusetts General Hospital
CRP Building – 5th Floor
Suite 5300
185 Cambridge St .
Boston , MA 02114
Katherine B. Sims, M.D. - Director
Winie Xin, Ph.D., Laboratory Supervisor
Kellie Burke – Co-ordinator
617-726-5721
Website: www.dnalab.org

Molecular Genetics Laboratory -Rm 3421
The Hospital for Sick Children
555 University Ave
Toronto, Canada, M5G1X8
Peter N. Ray, PhD, Director
Contact: Leslie Steele, MSc, Coordinator
tel - (416) 813-6590
fax - (416) 813-7732
email: leslie.steele@sickkids.ca
Website: www.sickkids.ca/molecular
Testing for CLN1,2,3,5,6,8

Laboratory of Molecular Genetics
Helsinki University Hospital, Finland
PL 140, Haartmaninkatu 2
Helsinki, Finland 00290
Irma Järvelä, Laboratory Supervisor
Genetic testing for CLN1, CLN3, CLN5 and CLN8 and analysis for the major mutation of each. Part of an on-line European Directory of DNA diagnostic Laboratories (EDDNAL) website: www.EDDNAL.com
email: eddnal@skypro.be

Electronmicroscopy Diagnosis

Ultrastructural Diagnostic Laboratory
IBR Specialty Clinic Laboratories
1050 Forest Hill rd.
Staten Island , NY 10314
Krystyna E. Wisniewski, MD, PhD, Director
718-494-5202
email: battenkw@aol.com

DNA, Enzyme Assay and Electronmicroscopy

Centro de Estudio de las Metabolopatias Congenitas (CEMECO)
Director: Prof. Dra. Raquel Dodelson de Kremer
Pediatrist, Medical Genetician.
Address: Hospital de Niños de la Provincia de Córdoba
Bajada Pucará y Ferroviarios
5000 Córdoba , Argentina
Tel: +54 351 4586 473
Fax: +54 351 4586 439

Women's and Children's Hospital
72 King William Rd.
North Adelaide 5006
Australia
Michael Fietz, Ph.D. ­ Head
Ph: 00-61-8-8204-8062
Fax: 00-61-8-8204-7100
Email: michael.fietz@adelaide.edu.au

Enzyme Activity Analysis for Infantile (CLN1)
and Classic Late Infantile (CLN2)

Department Clinical Genetics
Erasmus University
Dr. Molewaterplein 50
3015 GE Rotterdam , the Netherlands
Dr. O. P.van Diggelen, Director
Tel: +31-10-408 7224
Fax: +31-10-408 7200

Enzyme Assay - Late Infantile - CLN2

Child & Parent Resource Inst
Biochemical Genetics Lab
600 Sanatorium Rd
London N6H 3W7
ON, Canada
Tony Rupar, PhD
Tel: (519) 858-2774 X2204
Fax: (519) 858-3913
E-mail: trupar@uwo.ca

Infantile & Late Infantile Enzyme Activity Assay

Children's Hospital and Medical Center
Laboratory CH-37
4800 Sand Point Way NE
Seattle , WA 98105
Rhona Jack, Ph.D. - Director
206-526-2216
email: rjack@chmc.org

Molecular Diagnosis

Department of Pathology and Laboratory Medicine
University of Rochester Medical Center
601 Elmwood Ave., Box 626
Rochester, New York 14642
Paul G. Rothberg, PhD, Director
Contact: Bonnie Nuccie, Supervisor
tel - (585) 273-2229
fax - (585) 273-5120
email: paul_rothberg@urmc.rochester.edu
email: bonnie_nuccie@urmc.rochester.edu
Diagnostic and carrier testing for CLN1, 2, and 3
Infantile, Late infantile & Juvenile