Disorders


 

Galactosemia


Synonym(s): Classic Galactosemia, Galactose-1-Phosphate Uridyltransferase Deficiency, GALT Deficiency

 

GeneReviewOMIM

GeneLocusProtein
GALT9p13Galactose-1-phosphate uridylyltransferase

Laboratory Test Method Prenatal Carrier *
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada• Targeted mutation analysis
  
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA• Analyte
• Enzyme assay
  
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA• Targeted mutation analysis
  
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey  
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA  
Centogene AG, Rare Disease Company - Rostock, Germany• Analyte
• Enzyme assay
  
CGC Genetics - Porto, Portugal• Targeted mutation analysis
  
CGC Genetics USA, Cytogenetics and Molecular Diagnostics Lab - Newark, NJ, USA• Targeted mutation analysis
  
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA• Analyte
• Enzyme assay
  
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region
  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GENDA - Ciudad autonoma de Buenos Aires, Argentina• Targeted mutation analysis
  
GeneDx - Gaithersburg, MD, USA  
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA• Analyte
  
Hamilton Regional Laboratory Medicine Program, Molecular Diagnostic Genetics - Hamilton, Canada  
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland• Targeted mutation analysis
  
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Analyte
• Enzyme assay
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand  
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Analyte
• Enzyme assay
• Protein analysis
  
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA• Targeted mutation analysis
  
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland• Sequence analysis of select exons
• Targeted mutation analysis
  
Medgene, MedGene - Bratislava, Slovakia  
New Jersey Medical School, Institute of Genomic Medicine - Newark, NJ, USA• Targeted mutation analysis
• Enzyme assay
  
New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics - Staten Island, NY, USA• Enzyme assay
  
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA• Targeted mutation analysis
• Analyte
• Enzyme assay
  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA• Targeted mutation analysis
  
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA• Targeted mutation analysis
• Analyte
• Enzyme assay
  
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Targeted mutation analysis
• Analyte
• Enzyme assay
  
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain  
Tor Vergata University of Roma, School of Medicine, Servizio di Genetica Medica - Rome, Italy  
Tulane University School of Medicine, Hayward Genetics Center Molecular Diagnostics Laboratory - New Orleans, LA, USA• Targeted mutation analysis
  
Tulane University School of Medicine, Tulane Biochemical Genetics Laboratory - New Orleans, LA, USA• Enzyme assay
  
University Hospital Brno, Center of Molecular Biology and Gene Therapy - Brno, Czech Republic  
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands• Analyte
• Enzyme assay
  
University of Maryland, Pediatric Biochemical Genetics Laboratory - Baltimore, MD, USA• Enzyme assay
  
University of Miami Miller School of Medicine, Biochemical Genetics Diagnostic Laboratory - Miami, FL, USA• Analyte
  
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA  

* 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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