Disorders


 

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 5


Synonym(s): PEOA5

 

OMIM

GeneLocusProtein
RRM2B8q23.1Ribonucleoside-diphosphate reductase subunit M2 B

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany  
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  
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.

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