Disorders


 

Early-Onset Primary Dystonia (DYT1)


Synonym(s): Dystonia 1, DYT1, Early Onset Primary Dystonia (DYT1), Early-Onset Torsion Dystonia, Early-Onset Torsion Dystonia, Dominant, Oppenheim's Dystonia, Torsion Dystonia 1

 

GeneReviewOMIM

GeneLocusProtein
TOR1A9q32-q34Torsin-1A

Laboratory Test Method Prenatal Carrier *
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands• Sequence analysis of the entire coding region
  
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada• Targeted mutation analysis
  
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA• Targeted mutation analysis
 
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Targeted mutation analysis
 
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada• Targeted mutation analysis
 
bio.logis Center for Human Genetics - Frankfurt, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
 
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
 
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Targeted mutation analysis
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
 
CGC Genetics - Porto, Portugal• Sequence analysis of select exons
 
Columbia University, Molecular Neurogenetics Laboratory - New York, NY, USA• Targeted mutation analysis
 
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
 
diagenos - Osnabrueck, Germany• Targeted mutation analysis
 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Targeted mutation analysis
 
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel• 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
 
Justus-Liebig University, Institute of Human Genetics - Giessen, Germany• Sequence analysis of select exons
 
Massachusetts General Hospital, Neurogenetics DNA Diagnostic Laboratory - Boston, MA, USA• Targeted mutation analysis
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Targeted mutation analysis
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
 
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
 
Rush University Medical Center, Genetics Laboratory - Department of Pathology - Chicago, IL, USA• 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
 
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain• Targeted mutation analysis
 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Targeted mutation analysis
 
University Hospital Lausanne, DNA Diagnostic Laboratory - Service de Génétique Médicale - Lausanne, Switzerland• Sequence analysis of the entire coding region
 
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany• Targeted mutation analysis
 
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.

Loading...