Torsion dystonia THAP1 mutation
Torsion Dystonia 6, early onset
DYT6
1. Diagnostic referrals from Neurology or Genetic Health Service NZ. 2. Predictive/carrier testing referrals from Genetic Health Service NZ
4 ml EDTA Whole blood. Do not centrifuge or freeze.
4 ml EDTA Whole blood. Do not centrifuge or freeze.
Specimen delivery Ambient on day of collection. Refridgerate overnight or weekend then send ambient
Sendaway - Cytogenetics
4 ml EDTA. Paediatric 1 ml EDTA
THAP1P
$THAP1