Disorders


 

RAPSN-Related Congenital Myasthenic Syndrome


 

OMIM

GeneLocusProtein
RAPSN11p11.243 kDa receptor-associated protein of the synapse

Laboratory Test Method Prenatal Carrier *
bio.logis Center for Human Genetics - Frankfurt, Germany  
CeGaT GmbH - Tuebingen, Germany  
Cologne University, Institute of Human Genetics - Cologne, Germany• Targeted mutation analysis
• Linkage analysis
  
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Institut de Pathologie et de Genetique, Centre de Genetique Humaine - Gosselies, Belgium  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany• Targeted mutation analysis
  
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
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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