Disorders


 

Charcot-Marie-Tooth Neuropathy Type 1A


Synonym(s): CMT 1A, CMT1A, Hereditary Motor and Sensory Neuropathy 1A

 

OMIM

GeneLocusProtein
PMP2217p12Peripheral myelin protein 22

Laboratory Test Method Prenatal Carrier *
2nd School of Medicine Charles University - Department of Child Neurology, DNA Laboratory - Praha 5, Czech Republic• Targeted mutation analysis
 
Aachen, RWTH, Institute of Human Genetics - Aachen, Germany• Targeted mutation analysis
 
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark• Targeted mutation analysis
 
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands• Targeted mutation analysis
 
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada• Targeted mutation analysis
 
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Targeted mutation analysis
 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• FISH-interphase
 
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada• Targeted mutation analysis
 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey• Targeted mutation analysis
 
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA• Targeted mutation analysis
 
CeGaT GmbH - Tuebingen, Germany• Targeted mutation analysis
 
Centogene AG, Rare Disease Company - Rostock, Germany• Targeted mutation analysis
 
CGC Genetics - Porto, Portugal• Targeted mutation analysis
 
Children's Hospital of Eastern Ontario, Molecular Genetics Diagnostic Laboratory - Ottawa, Canada• Targeted mutation analysis
 
Children's University Hospital, Human Genetics - Berne, Switzerland• Targeted mutation analysis
 
Cyprus Institute of Neurology and Genetics, Neurogenetics Department - Ayios Dhometios, Cyprus• Targeted mutation analysis
• Linkage analysis
 
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Targeted mutation analysis
 
Diagnostic Services of Manitoba, Health Sciences Centre site, Molecular Diagnostic Laboratory - Winnipeg, Canada• Targeted mutation analysis
 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Targeted mutation analysis
 
GENDA - Ciudad autonoma de Buenos Aires, Argentina• Targeted mutation analysis
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Targeted mutation analysis
 
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey• Targeted mutation analysis
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Targeted mutation analysis
• Linkage analysis
 
INTA University of Chile, Molecular Cytogenetic Laboratory - Santiago, Chile• Targeted mutation analysis
 
InterGenetics - Diagnostic Genetic Center, InterGenetics - Athens, Greece• Targeted mutation analysis
 
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden• Targeted mutation analysis
 
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Targeted mutation analysis
 
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand• Targeted mutation analysis
 
London Health Sciences Centre, Molecular Diagnostic Laboratory - London, Canada• Targeted mutation analysis
 
Medgene, MedGene - Bratislava, Slovakia• Targeted mutation analysis
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Targeted mutation analysis
• Linkage analysis
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Targeted mutation analysis
 
Ruhr University, Human Genetics - Bochum, Germany• Targeted mutation analysis
 
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea• Targeted mutation analysis
 
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Targeted mutation analysis
 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Targeted mutation analysis
 
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain• Targeted mutation analysis
 
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany• Targeted mutation analysis
 
University Children's Hospital, Labor Molekulargenetik, Abteilung Medizinische Genetik - Basel, Switzerland• Targeted mutation analysis
 
University of Bonn, Institute of Human Genetics - Bonn, Germany• Targeted mutation analysis
• Linkage analysis
 
University of Nebraska Medical Center, Human Genetics Laboratory, Munroe-Meyer Institute - Omaha, NE, USA• FISH-metaphase
• FISH-interphase
 
University of Turku, Diagnostic DNA Laboratory - Turku, Finland• Targeted mutation analysis
 

* 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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