Disorders

CHRNE-Related Congenital Myasthenic Syndrome

Gene	Locus	Protein
CHRNE	17p13.2	Acetylcholine receptor subunit epsilon

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders - Prague, Czech Republic
diagenos - Osnabrueck, Germany
Institut de Pathologie et de Genetique, Centre de Genetique Humaine - Gosselies, Belgium
Medgene, MedGene - Bratislava, Slovakia
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany	• Targeted mutation analysis
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain
Praxis fuer Humangenetik Wien - Vienna, Austria
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.