Disorders


 

Charcot-Marie-Tooth Neuropathy X Type 1


Synonym(s): Charcot-Marie-Tooth Disease X Type 1, CMTX1, GJB1-Related Charcot-Marie-Tooth Neuropathy

 

GeneReviewOMIM

GeneLocusProtein
GJB1Xq13.1Gap junction beta-1 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  
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark  
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands  
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada  
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
Burc Molecular Genetics Laboratory - Istanbul, Turkey  
CeGaT GmbH - Tuebingen, Germany  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Linkage analysis
  
Centogene AG, Rare Disease Company - Rostock, Germany  
CGC Genetics - Porto, Portugal  
Children's University Hospital, Human Genetics - Berne, Switzerland  
Cyprus Institute of Neurology and Genetics, Neurogenetics Department - Ayios Dhometios, Cyprus• Linkage analysis
  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany  
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of select exons
  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain  
InterGenetics - Diagnostic Genetic Center, InterGenetics - Athens, Greece  
InVitae Corporation - San Francisco, CA, USA  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
London Health Sciences Centre, Molecular Diagnostic Laboratory - London, Canada  
Medgene, MedGene - Bratislava, Slovakia  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
Praxis fuer Humangenetik Wien - Vienna, Austria  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Ruhr University, Human Genetics - Bochum, Germany  
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea  
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain  
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain  
University Hospital Lausanne, DNA Diagnostic Laboratory - Service de Génétique Médicale - Lausanne, Switzerland  
University of Bonn, Institute of Human Genetics - Bonn, Germany  
University of Turku, Diagnostic DNA Laboratory - Turku, Finland  

* 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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