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

  • 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. We also offer an MLPA-based test (multiplex ligation-dependent probe amplification) to detect large deletion/duplication.  In addition to point mutations and small ins/del, large exonic deletions/duplications have been reported in patients with MD.  Mutations in SGCE gene have been demonstrated to be associated with myoclonus dystonia syndrome.

Sample Preparation: Sample Preparation (PDF) 

Results

Results of DNA analysis will be communicated in a written report to the referring professional.

Reason

Sequencing and MLPA

Analysis is appropriate for the study of affected patients, for diagnostic confirmation in a presumed affected patient, and in prenatal testing situations when family mutation has been characterized. 

MLPA as add-on

This test would be appropriate for patients who have previously had sequence analysis performed for the SGCE gene but no sequence variation was found. MLPA is also available to offspring and siblings when the DNA deletion/duplication has been identified in the affected family member. Prenatal MLPA testing is also available.

Note: If our laboratory previously tested this person’s DNA, please contact us and ask if we still have sufficient DNA to complete the additional MLPA analysis.


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