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