Disorders


 

DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy


Synonym(s): AD Charcot-Marie-Tooth Disease Type 2B, Charcot-Marie-Tooth Disease, Dominant Intermediate B, Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, CMTDI1, DI-CMTB, DNM2-CMT2B

 

GeneReviewOMIM

GeneLocusProtein
DNM219pDynamin-2

Laboratory Test Method Prenatal Carrier *
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Linkage analysis
  
Centogene AG, Rare Disease Company - Rostock, Germany  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of select exons
  
HIBM Research Group - Reseda, CA, USA  
InVitae Corporation - San Francisco, CA, USA  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
University of Chicago, Genetic Services Laboratory - Chicago, IL, 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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