Neurogenetics DNA Diagnostic Laboratory: Diagnostic Testing for Mutations Associated with Myoclonus Dystonia (MD, SGCE)
- Phone: 617-726-5721
REQUIRED FOR ALL ORDERS
FORMS
- General Requisition Form
- Test Addition Form
- NCL Checklist
- Sample Preparation
- Consent Form
- Medical Release Form
CREDENTAILS
- CLIA #22DO883928
- New York State #CQP4866
- CLIA Certificate
- NY License, Sims
- NY License Xin
- Maryland License
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
