Neurogenetics DNA Diagnostic Laboratory: Diagnostic Testing for Mutations Associated with Myoclonus Dystonia (MD, SGCE)

  • Phone: 617-726-5721

Test Description

We offer DNA mutation analysis of the coding region of the gene for e-sarcoglycan (SGCE) by direct PCR-based DNA sequencing analysis. Mutations in SGCE gene have been demonstrated to be associated with myoclonus dystonia syndrome. 1

Sample Preparation: Sample Preparation (PDF)

Results

 

Results of DNA analysis will be communicated in a written report to the referring professional.ReasonAnalysis is appropriate for the study of affected patients, for diagnostic confirmation in a presumed affected patient, and in carrier or prenatal testing situations when family mutation has been characterized.


1.  A. Zimprich et al., (2001) Mutations in the gene for e-sarcoglycan cause myoclonus-dystonia syndrome. Nature Genetics, 29:1-4.

 

 

 

updated 5/24/2012