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

GeneReview OMIM

Gene	Locus	Protein
TOR1A	9q32-q34	Torsin-1A

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands
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	• Targeted mutation analysis
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Targeted mutation analysis
Centogene AG, Rare Disease Company - Rostock, Germany
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
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	• Targeted mutation analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
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
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.