Mitochondrial neurogastrointestinal encephalopathy syndrome
- Mitochondrial neurogastrointestinal encephalomyopathy
- MNGIE syndrome
- Myoneurogastrointestinal encephalopathy syndrome
- Oculogastrointestinal muscular dystrophy
Your QuestionMy doctor thinks I may have MNGIE.What tests can be performed to diagnosis this condition?
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Genetic testing can also be performed for MNGIE, and it is typically used to identify unaffected carriers of the condition. First, a DNA sample from an affected individual is tested to identify a change (mutation) in the TYMP gene (also called ECGF1). This gene provides instruction for making the thymidine phoshorylase enzyme. Once a mutation in identified, unaffected family members can undergo genetic testing for that specific mutation.
GeneTests lists the names of laboratories that are performing clinical testing for MNGIE.
Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
- Shoffner JM. Mitochondrial Neurogastrointestinal Encephalopathy Disease . GeneReviews. April 22, 2005; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mngie. Accessed 12/22/2009.