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Laboratory Test Reference Guide

Laboratory Information

Test Name

Torsion dystonia THAP1 mutation

Synonyms

Torsion Dystonia 6, early onset
DYT6

Specimen Collection

Pre Testing Requirements

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

Adult Specimen

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

Paediatric Specimen

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

Sample Delivery to Lab

Specimen delivery Ambient on day of collection. Refridgerate overnight or weekend then send ambient

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