Funded by the
National Institutes of Health

Holocarboxylase Synthetase Deficiency | Biotin Holocarboxylase Synthetase Deficiency | Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency | Early-Onset Combined Carboxylase Deficiency | Early-Onset Multiple Carboxylase Deficiency | Infantile Multiple Carboxylase Deficiency

Select all clinical laboratories
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence 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
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
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
Duke University Medical Center Pediatric Biochemical Genetics Lab Durham, NC David S Millington, PhD; Dwight D Koeberl, MD, PhD, FACMG; Sarah P Young, PhD, FACMG
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
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
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; John E Sherwin, PhD, DABCC
PreventionGenetics Molecular Diagnostics and BioBanking Marshfield, WI Bruce R Krawisz, MD; James L Weber, PhD; Thomas L Winder, PhD, FACMG; Khemissa Bejaoui, PhD
Universidad Autonoma de Madrid Centro de Diagnostico de Enfermedades Moleculares Madrid, Spain Magdalena Ugarte, PhD
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

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

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University of Washington
Seattle, Washington