Funded by the
National Institutes of Health

Carnitine Palmitoyltransferase IA Deficiency | CPT1A Deficiency | Hepatic CPT1 | Hepatic Carnitine Palmitoyltransferase 1 Deficiency | L-CPT 1 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	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
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
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 Philadelphia Michael J. Palmieri Metabolic Disease Laboratory Philadelphia, PA Michael J Bennett, PhD, FRCPath, DABCC
Children's Hospital of Philadelphia Molecular Genetics Laboratory Philadelphia, PA Catherine A Stolle, PhD; Avni Santani, 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
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
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
Oregon Health & Science University Molecular Diagnostic Center Portland, OR Sue Richards, PhD; Richard D Press, MD, 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
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