Funded by the
National Institutes of Health

Maple Syrup Urine Disease | BCKD Deficiency | Branched-Chain Ketoacid Dehydrogenase Deficiency | Branched-Chain Ketoaciduria | MSUD | Maple Syrup Disease
Includes: Maple Syrup Urine Disease Type 1A | Maple Syrup Urine Disease Type 1B | Maple Syrup Urine Disease Type 2

Select all clinical laboratories
Laboratories offering clinical testing:	Analyte	Enzyme assay	Prenatal diagnosis
ARUP Laboratories Biochemical Genetics Laboratory Salt Lake City, UT Edward R Ashwood, MD; Marzia Pasquali, PhD; Nicola Longo, MD, PhD; Patrice Held, PhD
Adelaide Women's and Children's Hospital National Referral Laboratory North Adelaide, Australia Michael J Fietz, 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 Genetic Testing at Saint Francis Genetics Laboratory Tulsa, OK Nancy J Carpenter, PhD, FACMG; Frederick V Schaefer, PhD, FACMG; Michael A Kayser, DO, FACMG
Dayton Children's Medical Center Molecular and Biochemical Genetics Laboratory Dayton, OH Marvin E Miller, MD
Duke University Medical Center Pediatric Biochemical Genetics Lab Durham, NC David S Millington, PhD; Dwight D Koeberl, MD, PhD
Emory University School of Medicine Emory Biochemical Genetics Laboratory Atlanta, GA Fran Kendall, MD; Miao He, PhD
Greenwood Genetic Center Metabolic Laboratory Greenwood, SC Tim C Wood, PhD
Laboratories offering clinical testing:	Analyte	Enzyme assay	Prenatal diagnosis
Massachusetts General Hospital Amino Acid Disorder (Neurochemistry) Lab Charlestown, MA Vivian E Shih, MD
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
Oregon Health & Science University Biochemical Genetics Laboratory/ Portland, OR Cary O Harding, MD, FACMG; Sue Richards, PhD
PerkinElmer Genetics, Inc. Bridgeville, PA Joseph M Quashnock, PhD, HCLD(ABB), FACB; Zhili Lin, MD, PhD, HCLD(ABB), FACB
Quest Diagnostics Nichols Institute - California Biochemical Genetics Laboratory San Juan Capistrano, CA Julie Ann Neidich, MD, FACMG; Denise Salazar, PhD; Renius Owen, PhD; Rajesh Sharma, PhD
Stanford Clinical Laboratories Biochemical Genetics Laboratory Palo Alto, CA Tina M Cowan, PhD
Universidad Autonoma de Madrid Centro de Diagnostico de Enfermedades Moleculares Madrid, Spain Magdalena Ugarte, PhD
University of Alabama at Birmingham UAB Biochemical Genetics Laboratory Birmingham J Daniel Sharer, PhD; S Lane Rutledge, MD, FACMG
University of California San Diego UCSD Biochemical Genetics Laboratory La Jolla, CA Bruce A Barshop, MD, PhD; William L Nyhan, MD, PhD
University of Colorado and Health Sciences Center UCDHSC Biochemical Genetics Laboratory Aurora, CO Stephen I Goodman, MD; Michael Woontner, PhD
University of Maryland Pediatric Biochemical Genetics Laboratory Baltimore, MD Erin T Strovel, PhD; Miriam G Blitzer, PhD
University of Miami Diagnostic Laboratories - Biochemical Genetics Miami, FL Carla Cuthbert, PhD; Louis J Elsas, MD, FFACMG
University of Michigan Michigan Medical Genetics Laboratories Ann Arbor, MI Jeffrey W Innis, MD, PhD; Ram K Iyer, PhD; Jess G Thoene, MD; Thomas W Glover, PhD; Ayesha Ahmad, MD
Yale University School of Medicine Yale Biochemical Disease Detection Laboratory New Haven, CT Margretta R Seashore, MD

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

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