Disorders

Mitochondrial Neurogastrointestinal Encephalopathy Disease

Synonym(s): Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, MNGIE Syndrome, Myoneurogastrointestinal Encephalopathy Syndrome, Thymidine Phosphorylase Deficiency

GeneReview OMIM

Gene	Locus	Protein
TYMP	22q13	Thymidine phosphorylase

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Analyte
Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders - Prague, Czech Republic	• Enzyme assay
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
Columbia University, Molecular Neurogenetics Laboratory - New York, NY, USA	• Analyte • Enzyme assay
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
GeneDx - Gaithersburg, MD, USA
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden
Medical Neurogenetics - Atlanta, GA, USA	• Analyte • Enzyme assay
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Transgenomic - New Haven, CT, 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.