DNA icon

Dystonia via the ANO3 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
ANO3 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
5293ANO381479 81479,81479 $990 Order Options and Pricing

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Jamie Fox, PhD

Clinical Features and Genetics

Clinical Features

Dystonia has been recently re-defined by an international panel as: “a movement disorder characterized by sustained and intermittent muscle contractions, causing abnormal, often repetitive, movements, postures or both. Dystonic movements are typically patterned, twisting and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation.” (Albanese et al. 2013).

Dystonia is a clinically heterogeneous disorder in regards to age of onset, distribution, and the occurrence of another movement disorder, including parkinsonism, myoclonus, and dyskinesia. Additional neurological manifestations reported in patients with the complex form of the disease include ataxia, oculomotor dysfunction and cognitive impairment. Age of onset varies from early infancy to late adulthood. Four types are distinguished based on the part of the body that is affected: (1) focal, if only one part of the body is affected; (2) segmental, if contiguous regions are affected; (3) multifocal, if non-contiguous regions are affected; and (4) generalized, if at least three parts of the body are affected, including the trunk and one leg (Klein et al. 2014; Lohmann and Klein 2017; Williams et al. 2017).

Based on the absence or presence of additional symptoms, three subtypes of dystonia are recognized. These include: (1) Isolated dystonia, when dystonic movements, with or without tremor, occur in isolation. (2) Combined dystonia, when dystonic movements are accompanied by additional movement disorders. (3) Complex dystonia, when dystonia occurs in the presence of additional neurological and/or systemic symptoms (Albanese et al. 2013; Klein et al. 2014; Camargo et al. 2015).

Isolated dystonia is estimated to affect about 16 in 100,000 individuals (Steeves et al. 2012).


To date, four genes have been conclusively implicated in isolated dystonia: TOR1A, THAP1, GNAL and ANO3. Pathogenic variants in all four genes are inherited in an autosomal dominant manner.

Pathogenic variants in the ANO3 gene have been implicated in isolated dystonia in several geographical and ethnical populations (Charlesworth et al. 2012; Stamelou et al. 2014; Ma et al. 2015). In these patients, dystonia usually has onset during the fourth decade of life. However, childhood onset has been described. In most cases, dystonia begins in the neck. Tremor is a prominent feature in patients with ANO3-related dystonia, resulting often in a misdiagnosis for essential tremor. Tremor affects several parts of the body, including the head, neck, trunk and limbs. The voice and posture are also affected. Tremor appears to be aggravated by stress. Additional features include myoclonic jerks, laryngeal dysphonia, torticollis, blepharospasm, and shaky writing. Dystonic movements gradually expand to other parts of the body and progress to generalized dystonia in about 10% of cases (Ma et al. 2015). ANO3 pathogenic variants have been reported mostly in familial cases. A de novo pathogenic variant has been documented in one patient with the sporadic form of the disorder (Zech et al. 2017). Reduced penetrance is speculated based on the history of the disease in several families (Charlesworth et al. 2012, Stamelou et al. 2014).

Four causative variants in the ANO3 gene have been reported to date for dystonia. All four variants are missense. Evidence for pathogenicity included co-segregation of the variants in several families with the history of isolated dystonia with craniofacial involvement and tremor (Human Gene Mutation Database).

ANO3 encodes anoctamin3 protein, a calcium-dependent channel transmembrane protein (Charlesworth 2012).

Clinical Sensitivity - Sequencing with CNV PGxome

ANO3 pathogenic variants have been identified in about 1% of patients with predominantly craniocervical dystonia (Zech et al. 2017).

Testing Strategy

This test provides full coverage of all coding exons of the ANO3 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test are patients with symptoms consistent with isolated dystonia and tremor. PreventionGenetics offers individual gene tests for all the genes that have been conclusively implicated in dystonia as well as a comprehensive Dystonia Panel (Klein et al. 2014; Lohmann and Klein 2017).


Official Gene Symbol OMIM ID
ANO3 610110
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Dystonia 24 AD 615034

Related Tests

Autosomal Dominant DOPA-Responsive Dystonia via the GCH1 Gene
Dystonia via the GNAL Gene
Dystonia via the THAP1 Gene
DYT1 Early-Onset Isolated Dystonia via the TOR1A Gene
GLUT1 Deficiency Syndrome via the SLC2A1 Gene
Hemiplegic Migraine and PRRT2-Related Disorders via the PRRT2 Gene
Myoclonus-Dystonia Syndrome via the SGCE Gene
Paroxysmal Nonkinesigenic Dyskinesia (DYT8) via the PNKD Gene
Sepiapterin Reductase (SR) Deficiency via the SPR Gene


  • Albanese A. et al. 2013. Movement Disorders. 28: 863-73. PubMed ID: 23649720
  • Camargo C.H. et al. 2015. Arquivos De Neuro-psiquiatria. 73: 350-8. PubMed ID: 25992527
  • Charlesworth G. et al. 2012. American Journal of Human Genetics. 91: 1041-50. PubMed ID: 23200863
  • Human Gene Mutation Database (Bio-base).
  • Klein C. et al. 2014. Dystonia Overview. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301334
  • Lohmann K., Klein C. 2017. Current Neurology and Neuroscience Reports. 17: 26. PubMed ID: 28283962
  • Ma L.Y. et al. 2015. Movement Disorders. 30: 743-4. PubMed ID: 25847575
  • Stamelou M. et al. 2014. Movement Disorders. 29: 928-34. PubMed ID: 24442708
  • Steeves T.D. et al. 2012. Movement Disorders. 27: 1789-96. PubMed ID: 23114997
  • Williams L. et al. 2017. European Journal of Neurology. 24: 73-81. PubMed ID: 27647704
  • Zech M. et al. 2017. Movement Disorders. 32: 549-559. PubMed ID: 27666935


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

loading Loading... ×


An error has occurred while calculating the price. Please try again or contact us for assistance.

View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: loading
Patient Prompt Pay Price: loading
A patient prompt pay discount is available if payment is made by the patient and received prior to the time of reporting.
Show Patient Prompt Pay Price
Copy Text to Clipboard