Disorders

Galactosemia

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

Gene	Locus	Protein
GALT	9p13	Galactose-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.