Disorders


 

Ornithine Transcarbamylase Deficiency


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

 

OMIM

GeneLocusProtein
OTCXp21.1Ornithine 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.

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