Dystonia Gene Panel: Comprehensive Genetic Testing for Movement Disorders
Understanding Dystonia and Genetic Testing
Dystonia is a complex neurological movement disorder characterized by involuntary muscle contractions that cause twisting, repetitive movements, and abnormal postures. The Dystonia Gene Panel represents a cutting-edge diagnostic tool that utilizes Next-Generation Sequencing (NGS) technology to analyze multiple genes simultaneously associated with various forms of dystonia. This comprehensive genetic assessment provides crucial insights into the underlying genetic causes of movement disorders, enabling more accurate diagnosis and personalized treatment approaches.
What the Dystonia Gene Panel Measures
This advanced genetic panel screens for mutations across numerous genes known to be associated with dystonia syndromes, including:
- TOR1A (DYT1) – Early-onset generalized dystonia
- THAP1 (DYT6) – Mixed-type dystonia
- GNAL (DYT25) – Adult-onset craniocervical dystonia
- ANO3 (DYT24) – Craniocervical dystonia with tremor
- Multiple other genes associated with specific dystonia subtypes
The panel employs state-of-the-art NGS methodology to provide comprehensive coverage of coding regions and critical intronic boundaries, ensuring high detection rates for pathogenic variants.
Who Should Consider Dystonia Genetic Testing?
Clinical Indications and Symptoms
This test is particularly recommended for individuals experiencing:
- Unexplained muscle spasms or contractions
- Involuntary twisting movements affecting specific body regions
- Abnormal postures that cannot be voluntarily controlled
- Family history of movement disorders or dystonia
- Early-onset movement symptoms (childhood or young adulthood)
- Progressive worsening of movement abnormalities
- Focal dystonia affecting specific areas like neck, eyelids, or hands
Benefits of Dystonia Gene Panel Testing
Undergoing genetic testing for dystonia offers numerous advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of dystonia subtypes
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Offers valuable information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Clinical Management: Guides appropriate interventions including medication selection and botulinum toxin therapy
- Research Contribution: Advances understanding of dystonia genetics for future treatments
Understanding Your Test Results
Your Dystonia Gene Panel results will be carefully interpreted by our genetic specialists and provided with comprehensive clinical context:
- Positive Result: Identifies a pathogenic mutation associated with dystonia, confirming genetic diagnosis
- Negative Result: No known pathogenic variants detected in tested genes, though other genetic or non-genetic causes may exist
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: May identify individuals carrying recessive dystonia gene mutations
All results include detailed interpretation and recommendations for follow-up care with your healthcare provider.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | Dystonia Gene Panel |
| Discount Price | $900 USD |
| Regular Price | $1200 USD |
| Turnaround Time | 4-6 weeks |
| Sample Type | Amniotic fluid / Chorionic villi / Peripheral blood |
| Test Components | Sterile container / Sterile Normal Saline Container / EDTA Vacutainer |
| Methodology | Next-Generation Sequencing (NGS) |
Pre-Test Instructions and Requirements
The Dystonia Gene Panel requires a doctor’s prescription for most clinical cases. However, prescription requirements do not apply for:
- Surgical planning cases
- Pregnancy-related testing
- Individuals planning international travel
Our genetic counseling team is available to discuss testing indications and assist with the ordering process.
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified laboratories ensures consistent, high-quality testing standards nationwide.
Take Control of Your Neurological Health
Understanding the genetic basis of movement disorders can be transformative for diagnosis and management. The Dystonia Gene Panel provides comprehensive genetic insights that may significantly impact your treatment journey and quality of life.
Ready to schedule your Dystonia Gene Panel? Contact our genetic specialists today to discuss your testing needs and schedule an appointment.
Call or WhatsApp: +1(267) 388-9828
Our team is available to answer your questions, assist with insurance inquiries, and help you navigate the genetic testing process with confidence and care.
