Funded by the
National Institutes of Health

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

Select all clinical laboratories
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Sequence analysis of select exons	Targeted mutation analysis	Enzyme assay	Prenatal diagnosis	Carrier testing
ARUP Laboratories Molecular Genetics Laboratory Salt Lake City, UT Elaine Lyon, PhD; Rong Mao, MD; Edward R Ashwood, MD; Pinar Bayrak-Toydemir, MD, PhD
Academic Medical Centre, University of Amsterdam DNA Diagnostics Laboratory Amsterdam, Netherlands Marcel M.A.M. Mannens, PhD
Adelaide Women's and Children's Hospital National Referral Laboratory North Adelaide, Australia Michael J Fietz, PhD
Ambry Genetics Corp Ambry Genetics Aliso Viejo, CA James Thompson, MD, PhD
Baylor College of Medicine Medical Genetics Laboratories Houston, TX Christine M Eng, MD, FACMG; William E O'Brien, PhD; Lee-Jun Wong, PhD; Sau W. Cheung, PhD
Boston University School of Medicine Center for Human Genetics Boston, MA Aubrey Milunsky, MD, DSc ; Jeff Mark Milunsky, MD
Buffalo General Hospital Robert Guthrie Biochemical Genetics Laboratory Buffalo, NY Georgirene D Vladutiu, PhD
Centogene GmbH Institute of Molecular Diagnostics Rostock, Germany Christoph Ehlers
Centre for DNA Fingerprinting and Diagnostics Diagnostics Division Hyderabad, India Ashwin B Dalal, DM (Medical Genetics)
Charles University, 1st Faculty of Medicine Institute of Inherited Metabolic Disorders Praha, Czech Republic Milan Elleder, MD, PhD
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Sequence analysis of select exons	Targeted mutation analysis	Enzyme assay	Prenatal diagnosis	Carrier testing
Children's Hospital and Regional Medical Center Biochemical and Molecular Genetics Laboratories Seattle, WA Sihoun Hahn, MD, PhD; Rhona Jack, PhD; C Ronald Scott, MD
Cincinnati Children's Hospital Medical Center Molecular Genetics Laboratory Cincinnati, OH Kejian Zhang, MD, MBA; Brad T Tinkle, MD, PhD
Detroit Medical Center University Laboratories Molecular Genetics Diagnostic Laboratory Detroit, MI Gerald L Feldman, MD, PhD, FACMG; Fatimah Nahhas, PhD
Edith Wolfson Medical Center Molecular Genetics Laboratory Holon, Israel Esther Leshinsky-Silver, PhD
Emory University School of Medicine Emory Biochemical Genetics Laboratory Atlanta, GA Miao He, PhD
Emory University School of Medicine Emory Molecular Genetics Laboratory Atlanta, GA Madhuri Hegde, PhD, FACMG; Bradford Coffee, PhD, FACMG; Lora JH Bean, PhD, FACMG
GENDA Ciudad autonoma de Buenos Aires, Argentina Viviana Bernath, PhD; Mariana Herrera, PhD
Genzyme Genetics Molecular Cytogenetics/Biochemistry Laboratory Santa Fe, NM James T Mascarello, PhD, FACMG
Genzyme Genetics Molecular Diagnostic Laboratory Westborough, MA Nicole Faulkner Castro, PhD, DABMG; Narasimhan Nagan, PhD, FACMG ; Ruth Heim, PhD, FACMG; Elizabeth Rohlfs, 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 Clinical Lab Partners / Molecular Genetics and Cytogenetics Newington, CT Laila Mnayer, MS, PhD, FACMG
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Sequence analysis of select exons	Targeted mutation analysis	Enzyme assay	Prenatal diagnosis	Carrier testing
LabCorp Molecular Biology Research Triangle Park, NC Kenneth J Friedman, PhD
Mayo Clinic - Minnesota Biochemical Genetics Laboratory Rochester, MN Dietrich Matern, MD; Piero Rinaldo, MD, PhD; Silvia Tortorelli, MD, PhD; Dimitar K Gavrilov , MD, PhD; Devin Oglesbee, PhD; Kimiyo Raymond, MD
Mayo Clinic - Minnesota Molecular Genetics Laboratory Rochester, MN Stephen N Thibodeau, PhD; D Brian Dawson, PhD ; W Edward Highsmith, PhD; Kevin Halling, MD, PhD; Matthew John Ferber, PhD
Mount Sinai School of Medicine Biochemical Diagnostic Laboratory New York, NY Robert J Desnick, PhD, MD; Marie E Grace, PhD
Mount Sinai School of Medicine Genetic Testing Laboratory (DNA Division) New York, NY Ruth Kornreich, PhD; Lisa Edelmann, PhD
New Jersey Medical School Institute of Genomic Medicine Newark, NJ James J Dermody, PhD
New York State Institute for Basic Research in Developmental Disabilities Biochemical Genetics Staten Island, NY Milen Velinov, MD, PhD
New York University School of Medicine Molecular Genetics Laboratory New York, NY Harry Ostrer, MD; Carole Oddoux, PhD
New York University School of Medicine NYU Neurogenetics Laboratory New York, NY Edwin H Kolodny, MD
Opmedic Group Inc. Genetic Laboratory Mont-Royal, Quebec, Canada Gilles Brisson, PhD, CSPQ, FACB
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Sequence analysis of select exons	Targeted mutation analysis	Enzyme assay	Prenatal diagnosis	Carrier testing
ProGene, Inc University Children's Genetics Laboratory Glendale, CA Toni R Prezant, PhD; William Huang, MD
Quest Diagnostics Nichols Institute - California Molecular Genetics Laboratory 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
Rabin Medical Center Molecular Genetics Petah Tikva, Israel Mordechai Shohat, MD
The Hospital for Sick Children Molecular Genetics Laboratory Toronto, Ontario, Canada Peter N Ray, PhD, FCCMG, FACMG; Tracy L Stockley, PhD, FCCMG
Thomas Jefferson University Lysosomal Diseases Testing Laboratory Philadelphia, PA David A Wenger, PhD; Paola Luzi, PhD
University of California San Diego Molecular Genetics Laboratory La Jolla, CA Linda M Wasserman, MD
University of Colorado Denver School Medicine DNA Diagnostic Laboratory Aurora, CO Elaine B Spector, PhD; Gunter Scharer, MD, PhD
University of Illinois Medical Center at Chicago Biochemical Genetics Laboratory Chicago, IL George Hoganson, MD
University of Maryland Pediatric Biochemical Genetics Laboratory Baltimore, MD Erin T Strovel, PhD; Miriam G Blitzer, PhD
University of Miami Diagnostic Laboratories - Molecular Genetics Miami, FL Lisa Baumbach Reardon, PhD, FACMG; Louis J Elsas, MD, FFACMG
University of Washington Molecular Development Laboratory Seattle, WA C Ronald Scott, MD

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Funding Support
National Library of Medicine, NIH
National Human Genome Research Institute, NIH

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University of Washington
Seattle, Washington