GTR Home > Tests > Search results - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

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Alberta Children's Hospital Molecular Diagnostic Laboratory
Alberta Children's Hospital
Calgary, Alberta, Canada
    Biochemical Genetics Laboratory
    ARUP Laboratories
    Salt Lake City, UT, United States
    AE
    • A: Analyte
    • E: Enzyme assay
      ARUP Laboratories, Molecular Genetics
      Salt Lake City, Utah, United States
      CT
      • C: Sequence analysis of the entire coding region
      • T: Targeted variant analysis
      E
      • E: Enzyme assay
      PC
      • P: Prenatal testing
      • C: Carrier testing
      Baylor Medical Genetics Laboratories
      Baylor College of Medicine
      Houston, Texas, United States
      CDE
      • D: Deletion/duplication analysis
      • E: Sequence analysis of select exons
      • C: Sequence analysis of the entire coding region
      A
      • A: Analyte
        Duzen Laboratuvarlar Grubu
        Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS
        Istanbul, Ankara, Turkey
        C
        • C: Sequence analysis of the entire coding region
          Centogene AG - the Rare Disease Company
          Rostock, Mecklenburg-Vorpommern, Germany
          CD
          • D: Deletion/duplication analysis
          • C: Sequence analysis of the entire coding region
          PC
          • P: Prenatal testing
          • C: Carrier testing
          CGC Genetics
          Porto, Porto, Portugal
          CDT
          • D: Deletion/duplication analysis
          • C: Sequence analysis of the entire coding region
          • T: Targeted variant analysis
          PC
          • P: Prenatal testing
          • C: Carrier testing
          Cytogenetics and Molecular Diagnostics Lab
          CGC Genetics USA
          Newark, New Jersey, United States
          T
          • T: Targeted variant analysis
          PC
          • P: Prenatal testing
          • C: Carrier testing
          Michael J. Palmieri Metabolic Disease Laboratory
          Children's Hospital of Philadelphia
          Philadelphia, Pennsylvania, United States
          AE
          • A: Analyte
          • E: Enzyme assay
            Claritas Genomics
            Cambridge, Massachusetts, United States
            CD
            • D: Deletion/duplication analysis
            • C: Sequence analysis of the entire coding region
              Counsyl
              South San Francisco, California, United States
              CT
              • C: Sequence analysis of the entire coding region
              • T: Targeted variant analysis
                Medical Genetics Laboratory
                Diagenom GmbH
                Rostock, Mecklenburg-Vorpommern, Germany
                CD
                • D: Deletion/duplication analysis
                • C: Sequence analysis of the entire coding region
                  MVZ Dortmund
                  Dr. Eberhard and Partner
                  Dortmund, Nordrhein-Westfalen, Germany
                  C
                  • C: Sequence analysis of the entire coding region
                    Emory Genetics Laboratory
                    Emory University School of Medicine
                    Decatur, Georgia, United States
                    CD
                    • D: Deletion/duplication analysis
                    • C: Sequence analysis of the entire coding region
                    AE
                    • A: Analyte
                    • E: Enzyme assay
                      Fridovich-Keil Research Lab
                      Emory University School of Medicine
                      Atlanta, GA, United States
                        GENDA
                        Ciudad autonoma de Buenos Aires, Argentina
                          P
                          • P: Prenatal testing
                          GeneDx
                          Gaithersburg, Maryland, United States
                          CD
                          • D: Deletion/duplication analysis
                          • C: Sequence analysis of the entire coding region
                            Laboratory of Human Genetics
                            GENOMED Health Care Center
                            Warsaw, Mazowieckie, Poland
                            E
                            • E: Sequence analysis of select exons
                            PC
                            • P: Prenatal testing
                            • C: Carrier testing
                            Greenwood Genetic Center Diagnostic Laboratories
                            Greenwood Genetic Center
                            Greenwood, South Carolina, United States
                            C
                            • C: Sequence analysis of the entire coding region
                              Metabolic Laboratory
                              Greenwood Genetic Center
                              Greenwood, SC, United States
                              C
                              • C: Sequence analysis of the entire coding region
                              A
                              • A: Analyte
                              PC
                              • P: Prenatal testing
                              • C: Carrier testing
                              Molecular Diagnostic Genetics
                              Hamilton Regional Laboratory Medicine Program
                              Hamilton, Ontario, Canada
                              C
                              • C: Sequence analysis of the entire coding region
                                Instituto de Medicina Genomica
                                Paterna, Comunidad Valenciana, Spain
                                C
                                • C: Sequence analysis of the entire coding region
                                  Centre for Inherited Metabolic Diseases
                                  Karolinska University Hospital
                                  Stockholm, Stockholms Lan, Sweden
                                  C
                                  • C: Sequence analysis of the entire coding region
                                  PC
                                  • P: Prenatal testing
                                  • C: Carrier testing
                                  Institute of Clinical Genetics
                                  Klinikum Stuttgart
                                  Stuttgart, Baden-Wurttemberg, Germany
                                  C
                                  • C: Sequence analysis of the entire coding region
                                    Labor-MVZ Westmecklenburg
                                    Laboratory for Molecular Diagnostics
                                    Schwerin, Mecklenburg-Vorpommern, Germany
                                    CD
                                    • D: Deletion/duplication analysis
                                    • C: Sequence analysis of the entire coding region
                                    PC
                                    • P: Prenatal testing
                                    • C: Carrier testing
                                    Molecular Genetics Laboratory - Diagnostics Genetics
                                    LabPLUS - Auckland City Hospital
                                    Auckland, Auckland, New Zealand
                                    C
                                    • C: Sequence analysis of the entire coding region
                                    C
                                    • C: Carrier testing
                                    Mayo Clinic Genetic Testing Laboratories
                                    Mayo Clinic
                                    Rochester, Minnesota, United States
                                    C
                                    • C: Sequence analysis of the entire coding region
                                    AEP
                                    • A: Analyte
                                    • E: Enzyme assay
                                    • P: Protein analysis
                                      Genetic Diagnostics Laboratory
                                      MEDGEN
                                      Warsaw, Poland
                                      E
                                      • E: Sequence analysis of select exons
                                        MedGene
                                        Bratislava, Bratislava, Slovakia
                                        CD
                                        • D: Deletion/duplication analysis
                                        • C: Sequence analysis of the entire coding region
                                          Institute of Genomic Medicine
                                          New Jersey Medical School
                                          Newark, NJ, United States
                                            E
                                            • E: Enzyme assay
                                            C
                                            • C: Carrier testing
                                            Biochemical Genetics
                                            New York State Institute for Basic Research in Developmental Disabilities
                                            Staten Island, New York, United States
                                            E
                                            • E: Enzyme assay
                                              PerkinElmer Genetics, Inc.
                                              Bridgeville, Pennsylvania, United States
                                              T
                                              • T: Targeted variant analysis
                                              C
                                              • C: Carrier testing
                                              Praxis fuer Humangenetik Wien
                                              Vienna, Wien, Austria
                                              CD
                                              • D: Deletion/duplication analysis
                                              • C: Sequence analysis of the entire coding region
                                                PreventionGenetics
                                                Marshfield, Wisconsin, United States
                                                CD
                                                • D: Deletion/duplication analysis
                                                • C: Sequence analysis of the entire coding region
                                                  Quest Diagnostics Nichols Institute San Juan Capistrano
                                                  San Juan Capistrano, California, United States
                                                  T
                                                  • T: Targeted variant analysis
                                                    Biochemical and Molecular Genetics Laboratories
                                                    Seattle Children's Hospital
                                                    Seattle, WA, United States
                                                      AE
                                                      • A: Analyte
                                                      • E: Enzyme assay
                                                      C
                                                      • C: Carrier testing
                                                      Genomic Research Center
                                                      Shahid Beheshti University of Medical Sciences
                                                      Tehran, Tehran, Iran
                                                      T
                                                      • T: Targeted variant analysis
                                                        Center of Medical Genetics
                                                        Sir Ganga Ram Hospital
                                                        New Delhi, Delhi, India
                                                        C
                                                        • C: Sequence analysis of the entire coding region
                                                        AE
                                                        • A: Analyte
                                                        • E: Enzyme assay
                                                          Bristol Genetics Laboratory - North Bristol NHS Trust
                                                          Southmead Hospital - Pathology Sciences
                                                          Bristol, Avon, United Kingdom
                                                          CD
                                                          • D: Deletion/duplication analysis
                                                          • C: Sequence analysis of the entire coding region
                                                            Servizio di Genetica Medica
                                                            Tor Vergata University of Roma, School of Medicine
                                                            Rome, Italy
                                                            C
                                                            • C: Sequence analysis of the entire coding region
                                                            P
                                                            • P: Prenatal testing
                                                            Hayward Genetics Center Molecular Diagnostics Laboratory
                                                            Tulane University School of Medicine
                                                            New Orleans, LA, United States
                                                              P
                                                              • P: Prenatal testing
                                                              Tulane Biochemical Genetics Laboratory
                                                              Tulane University School of Medicine
                                                              New Orleans, LA, United States
                                                              E
                                                              • E: Enzyme assay
                                                                Human Genetics
                                                                University Hospital Bern
                                                                Berne, Bern, Switzerland
                                                                S
                                                                • S: Mutation scanning of the entire coding region
                                                                  Center of Molecular Biology and Gene Therapy
                                                                  University Hospital Brno
                                                                  Brno, Czech Republic
                                                                  C
                                                                  • C: Sequence analysis of the entire coding region
                                                                  PC
                                                                  • P: Prenatal testing
                                                                  • C: Carrier testing
                                                                  Laboratory Genetic Metabolic Diseases
                                                                  University of Amsterdam Academic Medical Center
                                                                  Amsterdam, Noord-Holland, Netherlands
                                                                  C
                                                                  • C: Sequence analysis of the entire coding region
                                                                  AE
                                                                  • A: Analyte
                                                                  • E: Enzyme assay
                                                                  PC
                                                                  • P: Prenatal testing
                                                                  • C: Carrier testing
                                                                  Pediatric Biochemical Genetics Laboratory
                                                                  University of Maryland
                                                                  Baltimore, MD, United States
                                                                  E
                                                                  • E: Enzyme assay
                                                                    Clinical Biochemical Genetics Diagnostic Laboratory
                                                                    University of Miami Miller School of Medicine
                                                                    Miami, Florida, United States
                                                                    A
                                                                    • A: Analyte
                                                                      Genetics Laboratory
                                                                      University of Oklahoma Health Sciences Center
                                                                      Oklahoma City, Oklahoma, United States
                                                                      C
                                                                      • C: Sequence analysis of the entire coding region

                                                                        IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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