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

  • Phone: 617-726-5721

Test Description

We offer direct sequencing 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 clinically affected patients as well as laboratory confirmation of the mutations identified by research in RDP patients.  Prenatal testing is available when family mutation has been identified.

 


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