Disorders

COLQ-Related Congenital Myasthenic Syndrome

Gene	Locus	Protein
COLQ	3p	Acetylcholinesterase collagenic tail peptide

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
Cologne University, Institute of Human Genetics - Cologne, Germany
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
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.