Disorders


 

Mitochondrial Neurogastrointestinal Encephalopathy Disease


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

 

GeneReviewOMIM

GeneLocusProtein
TYMP22q13Thymidine phosphorylase

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Analyte
• Deletion/duplication analysis
 
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• Sequence analysis of the entire coding region
• 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• Sequence analysis of the entire coding region
• Analyte
• Enzyme assay
 
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel• Sequence analysis of the entire coding region
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Sequence analysis of the entire coding region
Medical Neurogenetics - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Analyte
• Enzyme assay
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
Transgenomic - New Haven, CT, USA• Sequence analysis of the entire coding region
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, USA• Sequence analysis of the entire coding region

* 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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