Disorders


 

Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations


 

OMIM

GeneLocusProtein
MEF2C5q14.3Myocyte-specific enhancer factor 2C

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany  
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands  
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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