Funded by the
National Institutes of Health

Acid Sphingomyelinase Deficiency
Includes: Niemann-Pick Disease Type A | Niemann-Pick Disease Type B

Select all clinical laboratories
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Targeted mutation analysis	Analyte	Enzyme assay	Deletion/duplication analysis	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
Beaumont Hospital, Royal Oak Molecular Pathology Laboratory Royal Oak, MI Domnita Crisan, MD
Boston University School of Medicine Center for Human Genetics Boston, MA Aubrey Milunsky, MD, DSc
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	Targeted mutation analysis	Analyte	Enzyme assay	Deletion/duplication analysis	Prenatal diagnosis	Carrier testing
Detroit Medical Center University Laboratories Molecular Genetics Diagnostic Laboratory Detroit, MI Gerald L Feldman, MD, PhD, FACMG; Fatimah Nahhas, 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
Genos Genos S.A. Buenos Aires, Argentina Jose Maria Sanchez, MD
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
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 Genetic Testing Laboratory (DNA Division) New York, NY Ruth Kornreich, PhD; Lisa Edelmann, PhD
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Targeted mutation analysis	Analyte	Enzyme assay	Deletion/duplication analysis	Prenatal diagnosis	Carrier testing
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 NYU Neurogenetics Laboratory New York, NY Edwin H Kolodny, MD
Opmedic Group Inc. Genetic Laboratory Mont-Royal, Quebec, Canada Gilles Brisson, PhD, CSPQ, FACB
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
Stanford Clinical Laboratories Molecular Pathology Laboratory Palo Alto, CA Iris Schrijver, MD; James L Zehnder, 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 Miami Diagnostic Laboratories - Molecular Genetics Miami, FL Lisa Baumbach Reardon, PhD, FACMG; Louis J Elsas, MD, FFACMG

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

Sponsoring Institution
University of Washington
Seattle, Washington