Disorders

Myoclonus-Dystonia

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

Gene	Locus	Protein
SGCE	7q21.3	Epsilon-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.