Disorders


 

Orotic Aciduria


Synonym(s): Oroticaciduria

 

OMIM

GeneLocusProtein
UMPS3q13Uridine 5'-monophosphate synthase

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• Analyte
  
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA• Analyte
  
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA• Analyte
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA• Analyte
Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, USA• Analyte
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA• Analyte
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Analyte
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication analysis
 
University of Alabama Birmingham, Biochemical Genetics Laboratory - Birmingham, AL, USA• Analyte
 
University of California San Diego, Biochemical Genetics Laboratory - La Jolla, CA, 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.

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