DNA Diagnosis, Carrier and Prenatal

Neurogenetics DNA Diagnostic Laboratory
Massachusetts General Hospital
Center for Human Genetic Research
CRP Building North, Suite 5240
185 Cambridge Street
Boston, MA 02114
Katherine B. Sims, M.D. - Director
Winnie Xin, Ph.D. - Laboratory Supervisor
Kelly Burke - Coordinator
Phone: (617) 726-5721
Website: www.dnalab.org

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
Phone: (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

The Hospital for Sick Children
Molecular Genetics Laboratory
555 University Ave
Toronto, Canada, M5G1X8
Peter N. Ray, PhD - Director
Contact: Leslie Steele, MSc - Coordinator
Phone: (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

University of Goettingen
Department of Pediatrics
Robert-Koch-Str. 40
D-37075 Goettingen, Germany
Robert Steinfeld, M.D., Ph,D. - Director
Enzyme assay for CLN 1, CLN 2 and CLN 10 (CTSD)
DNA genetic testing for: CLN 1, CLN 2, CLN 3, CLN 5, CLN 6, CLN 7, CLN 8, CLN 10

Laboratory of Molecular Genetics
Helsinki University Hospital, Finland
PL 140, Haartmaninkatu 2
Helsinki, Finland 00290
Irma J'rvel' - 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: http://www.eddnal.com
Email: eddnal@skypro.be

Electronmicroscopy Diagnosis

IBR Specialty Clinic Laboratories
1050 Forest Hill rd.
Staten Island , NY 10314
Carolyn Salafia - EM Consultant
Phone: (718) 494-5100
Violet Nealy - SCL Administrator
Phone: (718) 494-5345

Tufts Medical Center
Department of Pathology
Dr. Joseph Alroy
750 Washington Street
Boston, MA 02111
Phone: (617)636-0581
Fax: (617)636-8302
Email: joseph.alroy@tufts.edu

Mayo Medical Laboratories
3050 Superior Drive NW
Rochester, MN 55901
Phone: (800) 533-1710
Email: mml@mayo.edu
Website: http://www.mayomedicallaboratories.com/test-catalog/Overview/89494

DNA, Enzyme Assay and Electronmicroscopy

Centro de Estudio de las Metabolopatias Congenitas (CEMECO)
Prof. Dra. Raquel Dodelson de Kremer - Director
Hospital de Ni'os de la Provincia de C'rdoba
Bajada Pucar' y Ferroviarios
5000 C'rdoba , Argentina
Phone: +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
Phone: 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)

Children's Hospital and Medical Center
Laboratory CH-37
4800 Sand Point Way NE
Seattle , WA 98105
Rhona Jack, Ph.D. - Director
Phone: (206) 526-2216
Email: rjack@chmc.org
Website: http://www.seattlechildrens.org/healthcare-professionals/access-services/diagnostic-services/geneticslab/

Mayo Medical Laboratories
3050 Superior Drive NW
Rochester, MN 55901
Phone: (800) 533-1710
Email: mml@mayo.edu
Website: http://www.mayomedicallaboratories.com/test-catalog/Overview/89494

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

Enzyme Assay - Late Infantile - CLN2

Child & Parent Resource Institute
Biochemical Genetics Lab
600 Sanatorium Rd
London N6H 3W7
ON, Canada
Tony Rupar, PhD - Director
Phone: (519) 858-2774 ext 2204
Fax: (519) 858-3913
Email: trupar@uwo.ca