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Dystonia 6
Short Description : Dystonia 6 genetic testing (THAP1 gene)
Also known as : [Torsion Dystonia 6]
DNA/RNA
Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Genetics
Referral Requirements
Important Note:
Requires referral through Neurology or Genetic Services.
Predictive testing requires referral through Genetic Services.
Contacts:
Genetic Health Service NZ can be contacted on 0800 476 123.
Neurology can be contacted on (09) 307 4949 ext. 25662.
Specimen Collection
8 mL Adult EDTA Blood
4 mL Paediatric EDTA Blood
Note:
For paediatric samples a minimum of 0.5ml blood EDTA can be processed. (Microcollect)
Transport all bloods at room temperature within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at room temperature the following day.
For testing of other sample types please contact the laboratory prior to sending.
Turnaround Time: 13 weeks
Contact Information
To contact the Molecular Genetics team:
Background Information
Dystonia-6 is an autosomal dominant movement disorder characterised by early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties.
Mutations in
THAP1
are the cause of dystonia type 6 (DYT6) .
Molecular genetic testing is available for
THAP1
.
For more information about the Molecular Genetics service:
Molecular Genetics information page
Last updated at 15:45:21 07/03/2024