Disorders


 

MED12-Related Disorders


 

GeneReviewOMIM

GeneLocusProtein
MED12Xq13Mediator of RNA polymerase II transcription subunit 12

Laboratory Test Method Prenatal Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain• Targeted mutation analysis
  
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA• Targeted mutation analysis
  
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany• Sequence analysis of select exons
  
Center for Human Genetics, Inc - Cambridge, MA, USA  
Centogene AG, Rare Disease Company - Rostock, Germany  
diagenos - Osnabrueck, Germany• Sequence analysis of select exons
  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA  
InVitae Corporation - San Francisco, CA, USA  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Medgene, MedGene - Bratislava, Slovakia  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  

* 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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