Disorders


 

POLG-Related Mitochondrial DNA Depletion Syndrome, MNGIE Form


Synonym(s): Mitochondrial DNA Depletion Syndrome 4B (MNGIE Type), Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, POLG-Related, MNGIE, POLG-Related, MTDPS4B

 

OMIM

GeneLocusProtein
POLG15q24DNA polymerase subunit gamma-1

Laboratory Test Method Prenatal Carrier *
Praxis fuer Humangenetik Wien - Vienna, Austria• 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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