DNA Mutation Testing for Rapid Onset Dystonia Parkinsonism (RDP; DYT12; ATP1A3)
- 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 direct PCR-based DNA test for mutations in ATP1A3 gene.
The mutations in ATP1A3 have been found to be associated with autosomal dominant movement disorder, Rapid Onset Dystonia Parkinsonism.1
Sample Preparation: Sample Preparation (PDF)
Results
Results of DNA analysis will be communicated in a written report to the referring professional.
Reason
Analysis is currently available for clinical laboratory confirmation of the mutations identified by research in RDP patients, and in carrier or in prenatal testing situations when family mutation has been characterized by research.
1. Aguiar, P. et al. (2004). Mutations in the Na +/K +-ATPase a3 gene ATP1A3 are associated with rapid onset dystonia Parkinsonism. Neuron, 43:1-20.
updated 5/24/2012
