Disorders


 

Charcot-Marie-Tooth Neuropathy Type 2A2


Synonym(s): CMT 2A, CMT2A2

 

OMIM

GeneLocusProtein
MFN21p36.22Mitofusin-2

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, Bioscientia GmbH - Ingelheim, Germany• Linkage analysis
  
Centogene AG, Rare Disease Company - Rostock, Germany  
CGC Genetics - Porto, Portugal  
Cyprus Institute of Neurology and Genetics, Neurogenetics Department - Ayios Dhometios, Cyprus  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
diagenos - Osnabrueck, Germany• Mutation scanning of the entire coding region
  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of select exons
  
GeneDx - Gaithersburg, MD, USA  
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  
London Health Sciences Centre, Molecular Diagnostic Laboratory - London, Canada  
Medgene, MedGene - Bratislava, Slovakia  
Medical Neurogenetics - Atlanta, GA, USA  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
Praxis fuer Humangenetik Wien - Vienna, Austria  
Ruhr University, Human Genetics - Bochum, Germany  
Seoul National University Hospital, Molecular Diagnostics Laboratory - 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  
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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