Disorders


 

CHAT-Related Congenital Myasthenic Syndrome


 

OMIM

GeneLocusProtein
CHAT10q11.2Choline O-acetyltransferase

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany  
diagenos - Osnabrueck, Germany• Targeted mutation analysis
  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
Medgene, MedGene - Bratislava, Slovakia  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
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  

* 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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