Gaucher Disease | Glucocerebrosidase Deficiency | Glucosylceramidase Deficiency
Includes: Gaucher Disease Type 1 | Gaucher Disease Type 2 (Acute) | Gaucher Disease Type 3 (Subacute/Chronic) | Gaucher Disease, Cardiovascular Form | Gaucher Disease, Perinatal-Lethal Form
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Laboratories offering clinical testing:
Analysis of the entire coding region: Sequence analysisSequence analysis of select exonsTargeted mutation analysisLinkage analysisEnzyme assayPrenatal diagnosisCarrier testing
Academic Medical Centre, University of Amsterdam
Amsterdam, Netherlands
Marcel M.A.M. Mannens, PhD
XXX
Adelaide Women's and Children's Hospital
North Adelaide, South Australia, Australia
Michael J Fietz, PhD
XXXX
Ambry Genetics Corp
Aliso Viejo, CA
James Thompson, MD, PhD
XXXX
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
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
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
Charles University, 1st Faculty of Medicine
Praha, Czech Republic
Viktor Kozich, MD, PhD
X
Cincinnati Children's Hospital Medical Center
Cincinnati, OH
Kejian Zhang, MD, MBA
XXXX
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
Edith Wolfson Medical Center
Holon, Israel
Esther Leshinsky-Silver, PhD
X
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
XXXX
Ciudad autonoma de Buenos Aires, Argentina
Mariana Herrera, PhD; Viviana Bernath, PhD
XXX
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
Greenwood Genetic Center
Greenwood, SC
Tim C Wood, PhD
X
Hartford Hospital-Hartford-CT-USA
Newington, CT
Laila Mnayer, MS, PhD, FACMG
XXX
Karolinska University Hospital
Stockholm, Sweden
Ulrika von Döbeln
X
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
X
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
XXX
Mount Sinai School of Medicine
New York, NY
Ruth Kornreich, PhD; Lisa Edelmann, PhD
XXX
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
XXX
Opmedic Group Inc.
Mont-Royal, Quebec, Canada
Gilles Brisson, PhD, CSPQ, FACB
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
XXX
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
XXX
Rabin Medical Center
Petah Tikva, Israel
Mordechai Shohat, MD
XXX
Seattle Children's Hospital
Seattle, WA
Rhona Jack, PhD; C Ronald Scott, MD; Sihoun Hahn, MD, PhD
XXXXX
Shaare Zedek Medical Center
Jerusalem, Israel
Ephrat Levy-Lahad, MD; Paul Renbaum, PhD; Rachel Beeri, PhD
XXXX
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 California San Diego
La Jolla, CA
Linda M Wasserman, MD
XX
University of Colorado Denver School Medicine
Aurora, CO
Elaine B Spector, PhD; Gunter Scharer, MD, PhD
XX
University of Illinois Medical Center at Chicago
Chicago, IL
George Hoganson, MD
X
University of Maryland
Baltimore, MD
Miriam G Blitzer, PhD; Erin T Strovel, PhD
X
University of Miami
Miami, FL
Lisa Baumbach Reardon, PhD, FACMG; Louis J Elsas, MD, FFACMG
University of Washington
Seattle, WA
C Ronald Scott, MD
XX
Yale University School of Medicine
New Haven, CT
Allen E Bale, MD
X
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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