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Massachusetts
Boston University School of Medicine
Center for Human Genetics
700 Albany Street, Suite W408
Boston, MA 02118
Director: Aubrey Milunsky, MD, DSc and Jeff Milunsky, MD
Contact: Katherine Krepkovich, MS, MS Stephanie Newton, MS
Phone: (617) 638-7083 & FAX (617) 638-7092
E-mail: krepko@bu.edu
E-mail: snewton@bu.edu
Tests: Carrier , Prenatal , Diagnostic
Website: http://www.bumc.bu.edu/hg
Notes: Carrier, Prenatal & Diagnostic testing available for 10 other JGDs. Arrangements for testing through a health professional is required. Our preferred sample would be 7-10cc of whole blood sent in a lavender (EDTA) tube at room temperature. CALL CENTER OR SEE WEBSITE (http://www.bumc.bu.edu/hg) FOR UPDATED INFORMATION.
Genzyme Genetics Molecular Diagnostic Laboratory*
3400 Computer Drive
Westborough, MA 01581
Director: D. Alexa Sirko-Osadsa, PhD
Contact: Jennifer Teicher, MS
Phone: 800-255-7357; FAX 508-389-5549
E-mail: jennifer.teicher@genzyme.com
Tests: Carrier , Prenatal , Diagnostic
Website: http://www.genzymegenetics.com
Notes: (Request a Genetic Counselor)
*Arrangements for testing through a health professional is required.
Testing is available at this laboratory for 10 other Jewish genetic diseases, Carrier, Prenatal and Diagnostic.
Massachusetts General Hospital
Amino Acid Disorder/Neurochemistry Laboratory
55 Fruit Street
Boston, MA 02114
Director: Vivian E. Shih, MD
Contact: Roseann Mandell
Phone: 617-726-3884
E-mail: rmandell@partners.org
Tests: Diagnostic
Notes: Diagnostic testing is also available for Maple Syrup Urine Disease MSUD
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