Disorders

Charcot-Marie-Tooth Neuropathy Type 1A

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

Gene	Locus	Protein
PMP22	17p12	Peripheral 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 München - 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.