Disorders


 

RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy


 

OMIM

GeneLocusProtein
RRM2B8q23.1Ribonucleoside-diphosphate reductase subunit M2 B

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
CeGaT GmbH - Tuebingen, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
GeneDx - Gaithersburg, MD, USA  
Medical Neurogenetics - Atlanta, GA, USA  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain  
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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