Hexosaminidase A Deficiency | GM2 Gangliosidoses (Hexosaminidase A-Deficient) | HEX A Deficiency
Includes: Chronic and Adult-Onset Hexosaminidase A Deficiency | Juvenile (Subacute) Hexosaminidase A Deficiency | Tay-Sachs Disease
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Laboratories offering clinical testing:
Analysis of the entire coding region: Sequence analysisSequence analysis of select exonsTargeted mutation analysisLinkage analysisEnzyme assayDeletion/duplication analysisPrenatal diagnosisCarrier testing
Academic Medical Centre, University of Amsterdam
Amsterdam, Netherlands
Marcel M.A.M. Mannens, PhD
XXXX
Adelaide Women's and Children's Hospital
North Adelaide, South Australia, Australia
Michael J Fietz, PhD
XXX
Ambry Genetics Corp
Aliso Viejo, CA
James Thompson, MD, PhD
XXX
ARUP Laboratories
Salt Lake City, UT
Elaine Lyon, PhD; Rong Mao, MD; Edward R Ashwood, MD; Pinar Bayrak-Toydemir, MD, PhD
XXX
Baylor College of Medicine
Houston, TX
Sau W. Cheung, PhD; Christine M Eng, MD, FACMG; William E O'Brien, PhD; Lee-Jun Wong, PhD
XXX
Frankfurt, Germany
Prof Daniela Steinberger, MD, PhD
XXX
Boston University School of Medicine
Boston, MA
Aubrey Milunsky, MD, DSc; Jeff Mark Milunsky, MD
XXX
Buffalo General Hospital
Buffalo, NY
Georgirene D Vladutiu, PhD
Center for Human Genetics
Ingelheim, Germany
Dr Carsten Bergmann, MD, PD; Jochen Decker, MD, PhD
XXXX
Centogene GmbH
Rostock, Germany
Christoph Ehlers
XXXX
Centre for DNA Fingerprinting and Diagnostics
Hyderabad, India
Ashwin B Dalal, DM (Medical Genetics)
XX
Porto, Portugal
Purificacao Tavares, MD, PhD; Paula Rendeiro, CTO
XXX
Children's National Medical Center
Washington, DC
Mendel Tuchman, MD
X
Detroit Medical Center University Laboratories
Detroit, MI
Gerald L Feldman, MD, PhD, FACMG; Fatimah Nahhas, PhD
XXX
Diagenom GmbH
Rostock, Germany
Dr Hagen Pommerenke, PhD
XX
Emory University School of Medicine
Atlanta, GA
Miao He, PhD
X
Emory University School of Medicine
Atlanta, GA
Madhuri Hegde, PhD, FACMG; Bradford Coffee, PhD, FACMG; Lora JH Bean, PhD, FACMG
XXXXX
Ciudad autonoma de Buenos Aires, Argentina
Mariana Herrera, PhD; Viviana Bernath, PhD
X
Genos
Buenos Aires, Argentina
Jose Maria Sanchez, MD
Genzyme Genetics
Santa Fe, NM
James T Mascarello, PhD, FACMG
Genzyme Genetics
Westborough, MA
Elizabeth Rohlfs, PhD, FACMG; Narasimhan Nagan, PhD, FACMG; Nicole Faulkner Castro, PhD, DABMG; Ruth Heim, PhD, FACMG; Lynne Rosenblum-Vos, PhD, FACMG; Deborah Alexa Sirko-Osadsa, PhD, FACMG; Zhaoqing Zhou, PhD, DABMG; Hui Zhu, PhD, FACMG
Hartford Hospital-Hartford-CT-USA
Newington, CT
Laila Mnayer, MS, PhD, FACMG
XXX
Karolinska University Hospital
Stockholm, Sweden
Ulrika von Döbeln
X
Kimball Genetics, Inc.
Denver, CO
Annette K Taylor, PhD, FACMG
XXXX
LabCorp
Research Triangle Park, NC
Kenneth J Friedman, PhD
XXX
Mayo Clinic - Minnesota
Rochester, MN
Kimiyo Raymond, MD; Dietrich Matern, MD; Piero Rinaldo, MD, PhD; Silvia Tortorelli, MD, PhD; Dimitar K Gavrilov, MD, PhD; Devin Oglesbee, PhD
XX
Mayo Clinic - Minnesota
Rochester, MN
Stephen N Thibodeau, PhD; Kevin Halling, MD, PhD; D Brian Dawson, PhD; W Edward Highsmith, PhD; Matthew John Ferber, PhD
XXXX
McGill University Health Centre
Montreal, Quebec, Canada
Andrea Frota-Ruchon, MD, PhD, FABMG, FCCMG
XXXX
Mount Sinai School of Medicine
New York, NY
Ruth Kornreich, PhD; Lisa Edelmann, PhD
XXXX
Mount Sinai School of Medicine
New York, NY
Robert J Desnick, PhD, MD; Chunli Yu, MD
XXXXX
New Jersey Medical School
Newark, NJ
James J Dermody, PhD
New York State Institute for Basic Research in Developmental Disabilities
Staten Island, NY
Milen Velinov, MD, PhD
X
New York University School of Medicine
New York, NY
Harry Ostrer, MD; Carole Oddoux, PhD
XX
New York University School of Medicine
New York, NY
Edwin H Kolodny, MD
XX
Opmedic Group Inc.
Mont-Royal, Quebec, Canada
Gilles Brisson, PhD, CSPQ, FACB
XX
Oregon Health & Science University
Portland, OR
Cary O Harding, MD, FACMG; Sue Richards, PhD
XX
PreventionGenetics
Marshfield, WI
Thomas L Winder, PhD, FACMG; James L Weber, PhD; Bruce R Krawisz, MD; Khemissa Bejaoui, PhD
XXX
ProGene, Inc
Glendale, CA
William Huang, MD
XXXX
Quest Diagnostics Nichols Institute - California
San Juan Capistrano, CA
Charles Strom, MD, PhD; Weimin Sun, PhD, ABMG, CGMB, CLSP(MB); Arlene Buller, PhD, DABMG, HCLD, CGMB; Mei Peng, PhD, FACMG, CGMB; Franklin Quan, PhD, FACMG, CGMB
XXXX
Ruhr University
Bochum, Germany
Prof Dr med Joerg Thomas Epplen
XXX
Seattle Children's Hospital
Seattle, WA
Rhona Jack, PhD; C Ronald Scott, MD; Sihoun Hahn, MD, PhD
X
Shaare Zedek Medical Center
Jerusalem, Israel
Ephrat Levy-Lahad, MD; Paul Renbaum, PhD; Rachel Beeri, PhD
XXXX
Stanford Clinical Laboratories
Palo Alto, CA
Tina M Cowan, PhD
XX
Stanford Clinical Laboratories
Palo Alto, CA
James L Zehnder, MD; Iris Schrijver, MD
XX
The Hospital for Sick Children
Toronto, Ontario, Canada
Peter N Ray, PhD, FCCMG, FACMG; Tracy L Stockley, PhD, FCCMG
XXX
Thomas Jefferson University
Philadelphia, PA
David A Wenger, PhD
XX
University of Alabama at Birmingham
Birmingham, AL
Jerry N Thompson, PhD, FACMG
X
University of California San Diego
La Jolla, CA
Linda M Wasserman, MD
XXX
University of Colorado Denver School Medicine
Aurora, CO
Elaine B Spector, PhD; Gunter Scharer, MD, PhD
XX
University of Maryland
Baltimore, MD
Miriam G Blitzer, PhD; Erin T Strovel, PhD
XX
University of Miami
Miami, FL
Lisa Baumbach Reardon, PhD, FACMG; Louis J Elsas, MD, FFACMG
Note: Grid is blank for laboratories with a GeneTests Laboratory Directory status of Not Current (laboratory failed to provide annual review/verification).
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