Neurogenetics DNA Diagnostic Laboratory: Deletion Testing for Dystonia (DYT1)

  • Phone: 617-726-5721

Test DescriptionWe offer a direct PCR-based DNA deletion test for the dystonia (DYT1) disease. The 3-bp deletion (GAG) in the DYT1 gene has been identified in more than 99% of the carriers of the DYT1 haplotype as well as in some patients who do not have the DYT1 haplotype 1. Therefore, the deletion test is more sensitive than our previous (GT) polymorphism haplotype study and can be used in both the Ashkenazi Jewish (AJ) and non-Ashkenazi Jewish population. To date, the GAG deletion has been identified in classic early-onset generalized dystonia (AJ and non-Jewish) and some writer's cramp of adult-onset. Clinical phenotype and genotype correlation may expand as research progresses.

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, and in presymptomatic carrier or in prenatal testing situations.


1. Ozelius, L et al. (1997) Nature Genetics 17:40-48.

 

 

Remove Price link 3/4/2013