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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
EDTA8 mL Adult EDTA Blood
EDTA4 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

Contact Molecular Genetics via:

Lablink                                                     ext 22000

Mark Greenslade (Technical Head)   ext 22010

Pippa Grainger (Section leader)              ext 22014

Email: DGen@adhb.govt.nz




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 15:49:04 22/03/2021