Disorders

RAPSN-Related Congenital Myasthenic Syndrome

Gene	Locus	Protein
RAPSN	11p11.2	43 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.