Disorders

Ornithine Transcarbamylase Deficiency

Synonym(s): Hyperammonemia due to Ornithine Transcarbamylase Deficiency, Ornithine Carbamoyl Transferase Deficiency, Ornithine Carbamoyltransferase Deficiency, OTC Deficiency

OMIM

Gene	Locus	Protein
OTC	Xp21.1	Ornithine carbamoyltransferase

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA	• Analyte
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Analyte • Enzyme assay
Centogene AG, Rare Disease Company - Rostock, Germany	• Analyte
Centre de Biologie Est - Hospices Civils de Lyon, Maladies hrditaires du mtabolisme - Bron cedex, France	• Analyte
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA	• Analyte
Children's National Medical Center, Biochemical Genetics and Metabolism Laboratory - Washington, DC, USA	• Mutation scanning of the entire coding region • Enzyme assay
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA	• Analyte
Duke University Health System, Pediatric Biochemical Genetics Lab - Durham, NC, USA	• Analyte
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, USA	• Analyte
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA	• Analyte
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA
IPATIMUP, Population Genetics - Porto, Portugal	• Mutation scanning of the entire coding region • Linkage analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Biochemical Genetics - New York, NY, USA	• Analyte
National Health Laboratory Services, Inherited Metabolic Diseases - Cape Town, South Africa
New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics - Staten Island, NY, USA	• Analyte
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA	• Analyte
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Quest Diagnostics Nichols Institute - California, Biochemical Genetics Laboratory - San Juan Capistrano, CA, USA	• Analyte
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea	• Analyte
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA	• Analyte
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain	• Analyte
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA	• Analyte
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Analyte
University of Alabama Birmingham, Biochemical Genetics Laboratory - Birmingham, AL, USA	• Analyte
University of California San Diego, Biochemical Genetics Laboratory - La Jolla, CA, USA	• Analyte
University of Maryland, Pediatric Biochemical Genetics Laboratory - Baltimore, MD, USA	• Analyte
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA	• Analyte
Yale University School of Medicine, DNA Diagnostics Laboratory - New Haven, CT, USA	• Linkage analysis

^* 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.