Disorders


 

Charcot-Marie-Tooth Neuropathy Type 2B2


Synonym(s): CMT 2B2, CMT2B2

 

OMIM

GeneLocusProtein
MED2519q13.3 

Laboratory Test Method Prenatal Carrier *
InVitae Corporation - San Francisco, CA, USA  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Targeted mutation analysis
  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany• Mutation scanning of select exons
  

* 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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