Dentatorubral Pollidoluysian Atrophy Test

Overview

Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive disorder of ataxia, myoclonus, epilepsy, and progressive intellectual deterioration in children and ataxia, choreoathetosis, and dementia or character changes in adults. Age of onset varies from childhood through to late adulthood.

Category

• Genetics and Genomics
• Single Gene Diagnostics

Cost

Victorian patients only:
State funding for diagnostic, predictive and prenatal testing.

For non Victorian patients:

• $275 (diagnostic & predictive)
• prenatal testing

Reporting time

3 - 6 months

Contacts

P: 1300 118 247
E: [email protected]

Specimen Requirements

EDTA blood: Adult: 2 x 5 ml

Child: 1-2 ml

Notes

Blood Storage Requirements: Do not freeze. Store at 4°C or room temperature.

Genes tested

• ATN1