Disorders

Galactokinase Deficiency

Synonym(s): GALK Deficiency

Gene	Locus	Protein
GALK1	17q25.1	Galactokinase

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Centogene AG, Rare Disease Company - Rostock, Germany	• Analyte
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, USA	• Enzyme assay
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden	• Analyte
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte • Enzyme assay
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands	• Analyte • Enzyme assay

^* 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.