Funded by the
National Institutes of Health

Glycogen Storage Disease Type II (Pompe Disease) | Acid Alpha-Glucosidase Deficiency | Acid Maltase Deficiency | GAA Deficiency | GSD II | Glycogenosis Type II

Select all clinical laboratories
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Analyte	Enzyme assay	Protein analysis	Deletion/duplication analysis	Prenatal diagnosis	Carrier testing
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
Athena Diagnostics Inc Reference Lab Worcester, MA Sat Dev Batish, PhD, FACMG; Masamichi Ito, PhD, FACMG; Christine M Stanley, PhD, FACMG
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
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)
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
Children's Hospital of Eastern Ontario Molecular Genetics Diagnostic Laboratory Ottawa, Ontario, Canada Nancy Carson, PhD, FCCMG; Elizabeth McCready, PhD, FCCMG
Cincinnati Children's Hospital Medical Center Molecular Genetics Laboratory Cincinnati, OH Kejian Zhang, MD, MBA; Brad T Tinkle, MD, PhD
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Analyte	Enzyme assay	Protein analysis	Deletion/duplication analysis	Prenatal diagnosis	Carrier testing
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; Dwight D Koeberl, MD, PhD, FACMG
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
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
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
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
PreventionGenetics Molecular Diagnostics and BioBanking Marshfield, WI Bruce R Krawisz, MD; James L Weber, PhD; Thomas L Winder, PhD, FACMG; Khemissa Bejaoui, PhD
Sheffield Children's NHS Foundation Trust Sheffield Molecular Genetics Service Sheffield, United Kingdom Ann Dalton, PhD, FRCPath
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 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