Disorders


 

Myoclonus-Dystonia


Synonym(s): Dystonia 11, DYT11, Hereditary Essential Myoclonus, Myoclonic Dystonia

 

GeneReviewOMIM

GeneLocusProtein
SGCE7q21.3Epsilon-sarcoglycan

Laboratory Test Method Prenatal Carrier *
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands  
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
CeGaT GmbH - Tuebingen, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of select exons
  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of select exons
  
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand  
Liverpool Women's Hospital, Mersey Regional Molecular Genetics Laboratory - Liverpool, Great Britain  
Massachusetts General Hospital, Neurogenetics DNA Diagnostic Laboratory - Boston, MA, USA  
Medgene, MedGene - Bratislava, Slovakia  
Medical Neurogenetics - Atlanta, GA, USA  
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA• FISH-metaphase
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of select exons
  
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany  

* 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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