Test Centers
UNITED STATES
BDSRA Easy Access Genetic Services Program Invite and Genome Medical
In recent years several academic testing labs have closed including Massachusetts General. BDSRA understands the importance of affordable genetic testing and has partnered with Invitae and Genome medical to offer a negotiated reduced rate for families. The flyer below outlines the program details.
Phone: 877-688-0992
Email: [email protected]
DNA genetic testing for all forms
Ambry Genetics
Phone: (949) 900-5500
Email: [email protected]
DNA genetic testing for all forms
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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: [email protected]
Enzyme Activity Analysis for CLN1 and CLN2
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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: [email protected]
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DNA diagnosis, carrier and prenatal testing for CLN1, CLN2, CLN3, CLN5, CLN6, CLN8
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: [email protected]
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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
Source BDSRA: https://bdsra.org/what-is-batten-disease/locate-a-testing-center/