Links

Links to other sites

Organisations/Groups
→ The Brain Foundation
→ Dystonia Network of Australia Inc
→ Australian Dysphonia Network
→ Neurological Council of WA (NCWA)
→ Parkinson’s South Australia – Dystonia
→ FND Australia
→ FND Hope Australia (Functional Neurological Disorder)
→ Movement Disorder Society of Australia
→ DBS Dystonia Australia Support Group
→ Global Dystonia Registry

Genetic Services and Information

Patients should contact their GP/Specialist or a genetic service to discuss genetic testing before contacting a lab or pathology service.

→ Clinical Genetics Service – Austin, Mercy and Northern Hospital in Victoria
The service accepts referrals for adult and paediatric patients with a personal/family history of Familial neurological and muscle disorders. This may include individuals with a personal/family history of myotonic dystrophy, muscular dystrophy, ataxia, leukodystrophy, spinal muscular atrophy, dystonia, periodic paralysis, congenital myasthenic syndromes, hereditary neuropathy, and early onset dementia/parkinsonism.

Clinical Genetics at The Children’s Hospital at Westmead
The Clinical Genetics service at The Children’s Hospital at Westmead provides consultation and counselling regarding diagnosis and therapy for children and adults with inheritable disorders, chromosomal abnormalities, dysmorphic syndromes, non-syndromic congenital anomalies and other disorders.

Genetics (Canberra Statewide)
Diagnosis, counselling and support of individuals with, or at risk of, hereditary disorders. Please contact them to confirm if they do genetic testing for Dystonia.

St Vincent’s Pathology
Using private service – Cost to patient or fee. Dystonia gene – DYT1 Mutation (DYT1-GAG deletion; Dyt1; Dystonia gene; Torsin A; 1349; TOR1A). Blood sample referred to lab at Institute of Medical & Veterinary Science (SA Pathology).

SA Pathology
You can search Dystonia on their online Pathology Collection Guide for tests details. TOR1A Gene Known Mutation Test (Dyt1, Dystonia gene, Torsin A, 1350) – Mutation must have been identified in another family member and pre-test genetic counselling required for genetic testing. SA public patients not billed. All others, fee applies. TOR1A Gene Mutation Screen (Dyt1, Dystonia gene, Torsin A, 1349) – Request Requirements: Clinical notes and normal referral for differential test. SA public patients not billed. All others, fee applies.

PathWest Pathology (WA)
Dystonia (TOR1A): DYT1, Early Onset Primary Dystonia, Early Onset Torsion Dystonia. Genetic testing, differential diagnosis, predictive testing and prenatal testing. Common TOR1A deletion testing only. Prenatal diagnosis must be arranged prior – Contact laboratory well in advance of sample collection date. Contact Neurogenetics Diagnostic Genomics QEII Medical Centre 6383 4219 to confirm details and cost.

Monash Pathology
DNA – DYT1 MUTATION: Contact Genetics & Molecular Pathology for test details. Contact list: https://monashpathology.org/contact-us/senior-staff/

Alfred Health Pathology
Dystonia DYT1-GAG deletion (test code MS DYT1) – Blood sample sent to SA Pathology. Contact Human Molecular for test details. Contact list: https://www.alfredhealth.org.au/services/hp/pathology/

Melbourne Pathology
Dystonia Gene – TOR1A, Torsin A
Cost depends on testing performed (South Australian public patients are not billed. Fee applies to all others).

Australian Clinical Labs
Dyt 1 Gene Test, DYT1, TOR1A – Search Dystonia on their online Pathology Collection Manual for tests details (prices subject to change). For NSW, NT, SA, VIC and WA patients – Blood sample sent to SA Pathology (SA Pathology Billing Consent needed).

NSW Health Pathology Dystonia gene panel (blood or DNA)
WES, Exome Next generation sequencing, Dystonia, Torsion dystonia.

The Royal College of Pathologists of Australasia (RCPA)
Testing for THAP1 (also called “dystonia 6, torsion (autosomal dominant)”, DYT6). PRKRA (associated disorders Dystonia 16) – Genomics For Life
SLC2A1 (associated with Dystonia 9).

Updates for Noting
UpToDate – Inherited forms of dystonia
MSAC – Genetic testing for the diagnosis of early-onset or familial neuromuscular disorders (includes Neuropathy Panel)

Neuromuscular gene tests – Australasia Neurosmuscular Network
The Australasia Neurosmuscular Network’s role is to ensure quality diagnostic methods, clinical management and equal access to clinical trials or new therapies, for all individuals in Australia and New Zealand affected by neuromuscular disorders.

Garvan Institute of Medical Research
The institute researches condtions such as Neurological conditions and genetic testing. Garvan Institute of Medical Research DNA base (coming soon) – Access to genomic testing is expanding through specialist services, research studies and online DNA, or direct-to-consumer testing.

HUGO Gene Nomenclature Committee (HGNC)
Funded by the US National Human Genome Research Institute (NHGRI) and approves a gene name and symbol (short-form abbreviation).

MyGene2 Portal/Registry
MyGene2 is a global portal through which families with rare genetic conditions who are interested in sharing their health and genetic information can connect with other families, clinicians, and researchers. The genetic cause of most rare conditions is unknown and as a result, most families who undergo exome sequencing or whole genome sequencing do not receive a diagnosis. By sharing information through MyGene2, a family can help and even participate in the discovery of new genetic conditions and the genes underlying these conditions.

The Garvan Institute of Medical Research assisted with the website and helps families living with rare genetic disease to find others with mutations in the same gene. The aim is to support the 300+ million individuals worldwide living with rare disease to uncover a diagnosis.

Genetic Alliance Australia (GA)
Facilitates contact between families/individuals affected by the same, or similar condition, and/or provide information about relevant support groups both nationally and internationally. Provides services and support for individuals. GA has an extensive rare disease and genetic database.