Laboratory Test Reference Guide

Laboratory Information

Test Name

Torsion dystonia THAP1 mutation

Synonyms

Torsion Dystonia 6, early onset
DYT6

Specimen Collection

Adult Specimen

4 ml EDTA Whole blood. Do not centrifuge or freeze.

Pre Testing Requirements

1. Diagnostic referrals from Neurology or Genetic Health Service NZ. 2. Predictive/carrier testing referrals from Genetic Health Service NZ

Paediatric Specimen

4 ml EDTA Whole blood. Do not centrifuge or freeze.

Test Information

Department

Sendaway - Cytogenetics

Additional Information

Minimum Volume

4 ml EDTA. Paediatric 1 ml EDTA

Electronic Information

Registration Code

THAP1P

HL7 mapping code

$THAP1