Funded by the
National Institutes of Health

Fabry Disease | Alpha-Galactosidase A Deficiency | Anderson-Fabry Disease
Includes: Atypical Variants of Fabry Disease | Classic Fabry Disease

Select all clinical laboratories
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Analysis of the entire coding region: Mutation scanning	Analyte	Enzyme assay	Deletion/duplication analysis	Prenatal diagnosis	Carrier testing
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
Baylor Research Institute Institute of Metabolic Disease Dallas, TX Charles R Roe, MD; Lawrence Sweetman, PhD; Xiaowei Fu, PhD, MD; Teodoro Bottiglieri, PhD; Jiahuan Ding, MD, PhD; Bingzhi Yang, MD; Raphael Schiffmann, MD
Buffalo General Hospital Robert Guthrie Biochemical Genetics Laboratory Buffalo, NY Georgirene D Vladutiu, PhD
Center for Nephrology and Metabolic Disorders Laboratory for Molecular Diagnostics Weisswasser, Germany Mato Nagel, MD
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	Analysis of the entire coding region: Mutation scanning	Analyte	Enzyme assay	Deletion/duplication analysis	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
Duke University Health System Molecular Diagnostics Laboratory Durham, NC Michael B Datto, MD, PhD; Siby Sebastian, PhD; Catherine Rehder, PhD
Duke University Medical Center Glycogen Storage Disease Laboratory Durham, NC Deeksha S Bali, PhD; Yuan-Tsong Chen, MD, PhD
Emory University School of Medicine Emory Biochemical Genetics Laboratory Atlanta, GA Fran Kendall, MD; 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
GeneDx Gaithersburg, MD Sherri J Bale, PhD, FACMG; John G Compton, PhD; Anne Maddalena, PhD, FACMG ; Gabriele Richard, MD, FACMG
Genzyme Genetics Molecular Cytogenetics/Biochemistry Laboratory Santa Fe, NM James T Mascarello, PhD, FACMG
Greenwood Genetic Center Metabolic Laboratory Greenwood, SC Tim C Wood, PhD
Harvard Medical School Laboratory for Molecular Medicine Boston, MA Raju Kucherlapati, PhD; Heidi Rehm, PhD; Victoria Joshi, PhD; Birgit Funke, PhD
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Analysis of the entire coding region: Mutation scanning	Analyte	Enzyme assay	Deletion/duplication analysis	Prenatal diagnosis	Carrier testing
Labor für Humangenetik MVZ Humane Genetik München, Germany Claudia Nevinny-Stickel-Hinzpeter, Dr, Dr
Massachusetts General Hospital Neurogenetics DNA Diagnostic Laboratory Boston, MA Katherine B Sims, MD; Winnie Xin, PhD; Marsha F Browning, MD, MPH, MMSc, FACMG
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 Lysosomal Diagnostic Laboratory New York, NY Robert J Desnick, PhD, MD
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 NYU Neurogenetics Laboratory New York, NY Edwin H Kolodny, MD
PGxHealth The FAMILION(R)Test New Haven, CT Patricia D Murphy, PhD, FACMG
Praxis for Humangenetik Vienna, Austria Martin Gencik, MD
The Hospital for Sick Children Molecular Genetics Laboratory Toronto, Ontario, Canada Peter N Ray, PhD, FCCMG, FACMG; Tracy L Stockley, PhD, FCCMG
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Analysis of the entire coding region: Mutation scanning	Analyte	Enzyme assay	Deletion/duplication analysis	Prenatal diagnosis	Carrier testing
Thomas Jefferson University Lysosomal Diseases Testing Laboratory Philadelphia, PA David A Wenger, PhD; Paola Luzi, PhD
University of Alabama at Birmingham Metabolic Disease Laboratory Birmingham Jerry N Thompson, PhD, FACMG
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 Washington Molecular Development Laboratory Seattle, WA C Ronald Scott, MD; Danbin Xu, MD, PhD
Zentrum fuer Medizinische Genetik Osnabrueck, Germany Anna Gencik, MD; Andrej Gencik, MD, PhD; Heinz Gabriel, PhD

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

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Seattle, Washington