DNA Mutation Testing for Rapid Onset Dystonia Parkinsonism (RDP; DYT12; ATP1A3)

  • Phone: 617-726-5721

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