Locate a Testing Center

United States *

Neurogenetics DNA Diagnostic Laboratory

Massachusetts General Hospital

Center for Human Genetic Research

CRP Building North, Suite 5240
185 Cambridge St.
Boston, MA 02114
Katherine B. Sims, MD – Director
Winnie Xin, PhD – Laboratory Supervisor
Phone: (617) 726-5721
DNA diagnosis, carrier and prenatal testing
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Department of Pathology and Laboratory Medicine

University of Rochester Medical Center

601 Elmwood Ave., Box 626
Rochester, NY 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, CLN2 , and CLN3

Ambry Genetics

15 Argonaut
Aliso Viejo, CA 92656
Phone: (949) 900-5500
Email: info@ambrygen.com
DNA genetic testing for: CLN1, CLN2, CLN3, CLN4, CLN5, CLN6, CLN7, CLN8, CLN10, CLN11, CLN12, CLN13, CLN14
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Seattle Children’s Hospital

Laboratory A-6901

4800 Sand Point Way NE
Seattle, WA 98105
Rhona Jack, PhD – Director
Phone: (206) 987-2216
Email: rhona.jack@seattlechildrens.org
Enzyme Activity Analysis for CLN1 and CLN2
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Mayo Medical Laboratories

3050 Superior Dr. NW
Rochester, MN 55901
Phone: (800) 533-1710
Email: mml@mayo.edu
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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
Electronmicroscopy Diagnosis

Canada *

The Hospital for Sick Children

Molecular Genetics Laboratory

555 University Ave.
Toronto, Ontario M5G 1X8, Canada
Peter N. Ray, PhD – Director
Contact: Leslie Steele, MSc – Coordinator
Phone: (416) 813-6590
Fax: (416) 813-7732
Email: leslie.steele@sickkids.ca
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DNA diagnosis, carrier and prenatal testing for CLN1, CLN2, CLN3, CLN5, CLN6, CLN8

Child & Parent Resource Institute

Biochemical Genetics Lab

600 Sanatorium Rd.
London, Ontario N6H 3W7, Canada
Tony Rupar, PhD – Director
Phone: (519) 858-2774, ext. 2204
Fax: (519) 858-3913
Email: trupar@uwo.ca
Enzyme assay CLN2

Australia *

Women’s and Children’s Hospital

72 King William Rd.
North Adelaide 5006, Australia
Michael Fietz, PhD – Head
Phone: 00-61-8-8204-8062
Fax: 00-61-8-8204-7100
Email: michael.fietz@adelaide.edu.au
DNA, Enzyme Assay and Electronmicroscopy

Finland *

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 online European Directory of DNA Diagnostic Laboratories (EDDNAL)
Email: eddnal@skypro.be
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Germany *

University of Goettingen

Department of Pediatrics

Robert-Koch-Str. 40
D-37075 Goettingen, Germany
Robert Steinfeld, MD, PhD – Director
DNA diagnosis, carrier and prenatal testing
Enzyme assay for: CLN1, CLN2 and CLN10 (CTSD)
DNA genetic testing for: CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, CLN10

The Netherlands *

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
DNA diagnosis, carrier and prenatal testing

South America *

Centro de Estudio de las Metabolopatias Congenitas (CEMECO)

Hospital de Ni’os de la Provincia de C’rdoba
Bajada Pucar’ y Ferroviarios
5000 Cordoba, Argentina
Prof. Dra. Raquel Dodelson de Kremer – Director
Phone: +54 351 4586 473
Fax: +54 351 4586 439
DNA, enzyme assay and electronmicroscopy