Disorders

DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form

Synonym(s): Deoxyguanosine Kinase Deficiency, Deoxyguanosine Kinase (DGUOK) Deficiency

Gene	Locus	Protein
DGUOK	2p13	Deoxyguanosine kinase

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
GeneDx - Gaithersburg, MD, USA
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands
Medical Neurogenetics - Atlanta, GA, USA
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases - Nijmegen, Netherlands
Transgenomic, Transgenomic - Omaha - Omaha, NE, USA
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, 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.