Disorders

Charcot-Marie-Tooth Neuropathy Type 1D

Synonym(s): CMT 1D, CMT1D

Gene	Locus	Protein
EGR2	10q21.1	E3 SUMO-protein ligase EGR2

Laboratory	Test Method	Prenatal	Carrier *
Aachen, RWTH, Institute of Human Genetics - Aachen, Germany
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
InVitae Corporation - San Francisco, CA, USA
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Medgene, MedGene - Bratislava, Slovakia
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Praxis fuer Humangenetik Wien - Vienna, Austria
Ruhr University, Human Genetics - Bochum, Germany
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain

^* 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.