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• Sequence analysis of the entire coding region
 
Aachen, RWTH, Institute of Human Genetics - Aachen, Germany• Sequence analysis of the entire coding region
 
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands• Sequence analysis of the entire coding region
 
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Sequence analysis of the entire coding region
 
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of the entire coding region
• Linkage analysis
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
CGC Genetics - Porto, Portugal• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Cyprus Institute of Neurology and Genetics, Neurogenetics Department - Ayios Dhometios, Cyprus• Sequence analysis of the entire coding region
 
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
 
diagenos - Osnabrueck, Germany• Mutation scanning of the entire coding region
 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of the entire coding region
• Sequence analysis of select exons
• Deletion/duplication analysis
 
GeneDx - Gaithersburg, MD, USA• Deletion/duplication analysis
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of the entire coding region
 
InVitae Corporation - San Francisco, CA, USA• Sequence analysis of the entire coding region
 
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
 
London Health Sciences Centre, Molecular Diagnostic Laboratory - London, Canada• Sequence analysis of the entire coding region
 
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
Medical Neurogenetics - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
 
Ruhr University, Human Genetics - Bochum, Germany• Sequence analysis of the entire coding region
 
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain• Sequence analysis of the entire coding region
 
University of Bonn, Institute of Human Genetics - Bonn, Germany• Sequence analysis of the entire coding region
 
University of Turku, Diagnostic DNA Laboratory - Turku, Finland• Sequence analysis of the entire coding region
 

* 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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