Disorders


 

DOK7-Related Congenital Myasthenic Syndrome


 

OMIM

GeneLocusProtein
DOK74p16.2Protein Dok-7

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany• Targeted mutation analysis
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Targeted mutation analysis
  
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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