Funded by the
National Institutes of Health

Glutaricacidemia Type 1 | GA1 | GAI | Glutaricaciduria Type I

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 Biochemical Genetics Laboratory Salt Lake City, UT Edward R Ashwood, MD; Marzia Pasquali, PhD; Nicola Longo, MD, PhD; Patrice Held, PhD
Academic Medical Centre, University of Amsterdam Laboratory Genetic Metabolic Diseases Amsterdam, Netherlands Ronald JA Wanders, PhD
Ambry Genetics Corp Ambry Genetics Aliso Viejo, CA James Thompson, MD, 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
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
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
Emory University School of Medicine Emory Molecular Genetics Laboratory Atlanta, GA Madhuri Hegde, PhD, FACMG; Bradford Coffee, PhD, FACMG; Lora JH Bean, PhD, FACMG
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
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
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
PreventionGenetics Molecular Diagnostics and BioBanking Marshfield, WI James L Weber, PhD; Bruce R Krawisz, MD; Thomas L Winder, PhD, FACMG; Khemissa Bejaoui, PhD
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
Sheffield Children's NHS Foundation Trust Sheffield Molecular Genetics Service Sheffield, United Kingdom Ann Dalton, PhD, FRCPath
Stanford Clinical Laboratories Biochemical Genetics Laboratory Palo Alto, CA Tina M Cowan, 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
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 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 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
VU University Medical Center Metabolic Unit Amsterdam, Netherlands Cornelis Jakobs, PhD, Prof; Gajja S Salomons, PhD; Henk Blom, PhD
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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University of Washington
Seattle, Washington