Disorders

Carnitine Palmitoyltransferase IA Deficiency

Synonym(s): CPT 1A Deficiency, CPT1A Deficiency, Hepatic Carnitine Palmitoyltransferase 1 Deficiency, Hepatic CPT1, L-CPT 1 Deficiency

GeneReview OMIM

Gene	Locus	Protein
CPT1A	11q13.2	Carnitine O-palmitoyltransferase 1, liver isoform

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA	• Analyte
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA	• Analyte
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA	• Analyte
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA	• Analyte • Enzyme assay
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA	• Mutation scanning of the entire coding region
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA	• Analyte
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand	• Targeted mutation analysis
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte
Medgene, MedGene - Bratislava, Slovakia
Medical College of Wisconsin, Fatty Acid Oxidation Laboratory - Milwaukee, WI, USA	• Analyte • Enzyme assay
Medical Neurogenetics - Atlanta, GA, USA	• Analyte
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Biochemical Genetics - New York, NY, USA	• Analyte
Oregon Health and Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA	• Targeted mutation analysis
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA	• Analyte
Praxis fuer Humangenetik Wien - Vienna, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA	• Analyte
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands	• Analyte • Enzyme assay
University of Miami Miller School of Medicine, Biochemical Genetics Diagnostic Laboratory - Miami, FL, USA	• Analyte

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.