Funded by the
National Institutes of Health

Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency | MCAD Deficiency

Select all clinical laboratories
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Analyte	Enzyme assay	Protein analysis	Deletion/duplication analysis	Prenatal diagnosis	Carrier testing
ARUP Laboratories Biochemical Genetics Laboratory Salt Lake City, UT Edward R Ashwood, MD; Marzia Pasquali, PhD; Nicola Longo, MD, PhD; Patrice Held, PhD
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 Laboratory Genetic Metabolic Diseases Amsterdam, Netherlands Ronald JA Wanders, 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
Boston University School of Medicine Center for Human Genetics Boston, MA Aubrey Milunsky, MD, DSc
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
Centogene GmbH Institute of Molecular Diagnostics Rostock, Germany Christoph Ehlers
Charles University, 1st Faculty of Medicine Institute of Inherited Metabolic Disorders Praha, Czech Republic Milan Elleder, MD, PhD
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
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Analyte	Enzyme assay	Protein analysis	Deletion/duplication analysis	Prenatal diagnosis	Carrier testing
Children's Hospital of Eastern Ontario Molecular Genetics Diagnostic Laboratory Ottawa, Ontario, Canada Nancy Carson, PhD, FCCMG; Elizabeth McCready, PhD, FCCMG
Children's Mercy Hospital and Clinics Children's Mercy Hospital Molecular Genetics Laboratory Kansas City, MO Carol Saunders, PhD
Cincinnati Children's Hospital Medical Center Molecular Genetics Laboratory Cincinnati, OH Kejian Zhang, MD, MBA
Comprehensive Genetic Services, SC Molecular Diagnostic Laboratory Milwaukee, WI Anthony T Garber, PhD; Christine R Bryke, MD, FABMG
Department of Genetics UAB Medical Genomics Laboratory Birmingham Ludwine M Messiaen, PhD, FACMG; Bruce R Korf, MD, PhD, FACMG
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 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
Greenwood Genetic Center Metabolic Laboratory Greenwood, SC Tim C Wood, PhD
HUSLAB Laboratory of Molecular Genetics Helsinki, Finland Aarno Palotie, MD, PhD; Arto K Orpana, PhD
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Analyte	Enzyme assay	Protein analysis	Deletion/duplication analysis	Prenatal diagnosis	Carrier testing
Hamilton Regional Laboratory Medicine Program Molecular Diagnostic Genetics Hamilton, Ontario, Canada John S Waye, PhD
Labor für Humangenetik MVZ Humane Genetik München, Germany Claudia Nevinny-Stickel-Hinzpeter, Dr, Dr
London Health Sciences Centre Molecular Diagnostic Laboratory London, Ontario, Canada Peter J Ainsworth, BSc, PhD, MBChB, FRCPC
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
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
McGill University Health Centre Molecular Genetics Unit Montreal, Quebec, Canada Andrea Frota-Ruchon, MD, PhD, FABMG, FCCMG
Medical College of Wisconsin Fatty Acid Oxidation Laboratory Milwaukee, WI William J Rhead, MD, PhD
Medical Neurogenetics Atlanta, GA John M Shoffner, MD; Keith Hyland, PhD
Memorial University of Newfoundland Molecular Genetics Laboratory St. John's, Newfoundland, Canada Yagang Xie, MD, Dr Med Sci, FCCMG
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Analyte	Enzyme assay	Protein analysis	Deletion/duplication analysis	Prenatal diagnosis	Carrier testing
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
PreventionGenetics Molecular Diagnostics and BioBanking Marshfield, WI James L Weber, PhD; Bruce R Krawisz, MD; Thomas L Winder, PhD, FACMG
ProGene, Inc University Children's Genetics Laboratory Glendale, CA Toni R Prezant, PhD; William Huang, MD
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
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
Sheffield Children's NHS Foundation Trust Sheffield Molecular Genetics Service Sheffield, United Kingdom Ann Dalton, PhD, FRCPath
Sir Ganga Ram Hospital Department of Genetic Medicine New Delhi, India I C Verma, MD, FAAP, FRCP, FAMS; Renu Saxena, PhD; Meena Lall, PhD
Stanford Clinical Laboratories Biochemical Genetics Laboratory Palo Alto, CA Tina M Cowan, PhD
The Ohio State University Molecular Pathology Laboratory Columbus, OH Thomas W Prior, PhD, FACMG
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Analyte	Enzyme assay	Protein analysis	Deletion/duplication analysis	Prenatal diagnosis	Carrier testing
Universidad Autonoma de Madrid Centro de Diagnostico de Enfermedades Moleculares Madrid, Spain Magdalena Ugarte, PhD
University of Alberta Molecular Diagnostic Laboratory Edmonton, Alberta, Canada Martin Somerville, PhD, FCCMG, FACMG; Stacey Bleoo, PhD, FCCMG
University of Calgary Molecular Diagnostic Laboratory Calgary, Alberta, Canada Peter Bridge, PhD, FCCMG, FACMG; Jillian Parboosingh, PhD, FCCMG
University of California San Diego UCSD Biochemical Genetics Laboratory La Jolla, CA Bruce A Barshop, MD, PhD; William L Nyhan, MD, PhD
University of California, San Francisco Molecular Diagnostics Laboratory San Francisco, CA Farid F Chehab, PhD
University of Colorado Denver School Medicine DNA Diagnostic Laboratory Aurora, CO Elaine B Spector, PhD; Gunter Scharer, MD, PhD
University of Colorado and Health Sciences Center UCDHSC Biochemical Genetics Laboratory Aurora, CO Stephen I Goodman, MD; Michael Woontner, 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
University of Minnesota University of Minnesota Physicians Outreach Laboratory Minneapolis, MN Anthony Killeen, MD, PhD
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Analyte	Enzyme assay	Protein analysis	Deletion/duplication analysis	Prenatal diagnosis	Carrier testing
University of North Carolina Hospitals Molecular Genetics Chapel Hill, NC Karen E Weck, MD
University of Oklahoma Health Sciences Center Genetics Laboratory Oklahoma City, OK John J Mulvihill, MD; Shibo Li, MD
Vanderbilt Medical Center Molecular Genetics Laboratory Nashville, TN Cindy Vnencak-Jones, PhD
Washington University School of Medicine Molecular Diagnostic Laboratory St. Louis, MO Barbara Zehnbauer, PhD, FACMG
Yale University School of Medicine DNA Diagnostics Laboratory New Haven, CT Allen E Bale, MD
Yale University School of Medicine Yale Biochemical Disease Detection Laboratory New Haven, CT Margretta R Seashore, MD

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National Human Genome Research Institute, NIH

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Seattle, Washington