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Testing Centers

United States

DNA Diagnosis, Carrier and Prenatal

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
Kellie Burke – Clinic and Lab 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, 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 (Infantile), CLN2 (Late Infantile), and CLN3 (Juvenile)

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

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
Website: http://www.seattlechildrens.org/healthcare-professionals/access-services/diagnostic-services/laboratories/

       Neurogenetics DNA Diagnostic Laboratory
       Massachusetts General Hospital
       Department of Pathology
       c/o Dr. John Staropoli 
       CRP Building North, Suite 5240
       185 Cambridge St.
       Boston, MA 02114
       Phone: (617) 726-5721
       Website: www.dnalab.org

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

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

Neurogenetics DNA Diagnostic Laboratory
Massachusetts General Hospital
Department of Pathology
c/o Dr. John Staropoli
CRP Building North, Suite 5240
185 Cambridge St.
Boston, MA 02114
Phone: (617) 726-5721
Website: www.dnalab.org

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

Canada

DNA Diagnosis, Carrier and Prenatal

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
Website: www.sickkids.ca/molecular
Testing for CLN1, 2, 3, 5, 6, 8

Enzyme Assay – Late Infantile – CLN2

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

Australia

DNA, Enzyme Assay and Electronmicroscopy

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

Finland

DNA Diagnosis, Carrier and Prenatal

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
Website: http://www.eddnal.com

Germany

DNA Diagnosis, Carrier and Prenatal

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

The Netherlands

DNA Diagnosis, Carrier and Prenatal

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

South America

DNA, Enzyme Assay and Electronmicroscopy

Centro de Estudio de las Metabolopatias Congenitas (CEMECO)
Hospital de Ni’os de la Provincia de C’rdoba
Bajada Pucar’ y Ferroviarios
5000 C’rdoba, Argentina
Prof. Dra. Raquel Dodelson de Kremer – Director
Phone: +54 351 4586 473
Fax: +54 351 4586 439