Disorders

Charcot-Marie-Tooth Neuropathy Type 2I/2J

Synonym(s): Charcot Marie Tooth Neuropathy Type 2J, Charcot-Marie-Tooth Neuropathy Type 2I, Charcot-Marie-Tooth Neuropathy Type 2J, CMT 2I, CMT 2J, CMT2I, CMT2I/2J, CMT2J

OMIM

Gene	Locus	Protein
MPZ	1q22	Myelin P0 protein

Laboratory	Test Method	Prenatal	Carrier *
2nd School of Medicine Charles University - Department of Child Neurology, DNA Laboratory - Praha 5, Czech Republic
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
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics, Inc - Cambridge, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
Cyprus Institute of Neurology and Genetics, Neurogenetics Department - Ayios Dhometios, Cyprus	• Linkage analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
London Health Sciences Centre, Molecular Diagnostic Laboratory - London, Canada
Medical Neurogenetics - Atlanta, GA, USA
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Novogenia - Mondsee, Austria
Ruhr University, Human Genetics - Bochum, Germany
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain
University of Bonn, Institute of Human Genetics - Bonn, Germany

^* 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.