Disorders


 

EZH2-Related Overgrowth


 

GeneReviewOMIM

GeneLocusProtein
EZH27q35-q36Histone-lysine N-methyltransferase EZH2

Laboratory Test Method Prenatal Carrier *
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication analysis
  
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 

* 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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