CSTB Gene Unverricht-Lundborg Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Progressive Myoclonus Epilepsy
The CSTB Gene Unverricht-Lundborg Disease NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the cystatin B (CSTB) gene, which is responsible for Unverricht-Lundborg disease (EPM1). This progressive neurological disorder primarily manifests as myoclonus epilepsy and affects individuals typically during childhood or adolescence. Our advanced genetic testing provides crucial insights for accurate diagnosis, personalized treatment planning, and informed family decisions.
What This Test Measures and Detects
This comprehensive genetic analysis utilizes next-generation sequencing (NGS) technology to examine the complete coding region of the CSTB gene, identifying:
- Pathogenic mutations in the CSTB gene responsible for Unverricht-Lundborg disease
- Expanded dodecamer repeats in the promoter region of the CSTB gene
- Point mutations, deletions, and insertions affecting gene function
- Genetic variations that may impact disease severity and progression
Who Should Consider This Test
This genetic test is recommended for individuals experiencing:
- Unexplained myoclonic jerks or muscle twitches
- Progressive seizure disorders beginning in childhood or adolescence
- Family history of Unverricht-Lundborg disease or similar neurological conditions
- Progressive neurological symptoms with no clear diagnosis
- Ataxia or coordination difficulties accompanying seizure activity
- Cognitive decline following seizure onset
Key Benefits of Genetic Testing
Undergoing the CSTB Gene Unverricht-Lundborg Disease NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirm or rule out Unverricht-Lundborg disease with precision
- Personalized Treatment: Guide medication selection and management strategies
- Family Planning: Understand inheritance patterns and recurrence risks
- Early Intervention: Implement appropriate therapies before significant progression
- Genetic Counseling: Receive professional guidance on result interpretation
- Peace of Mind: Reduce uncertainty about neurological symptoms
Understanding Your Test Results
Our comprehensive genetic counseling service helps you interpret your results:
- Positive Result: Indicates the presence of CSTB gene mutations associated with Unverricht-Lundborg disease. Our genetic counselors will explain the implications for treatment and family members.
- Negative Result: Suggests that CSTB gene mutations were not detected, though other genetic or non-genetic causes may need investigation.
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or research to determine clinical significance.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CSTB Gene Unverricht-Lundborg Disease NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Methodology | Next-Generation Sequencing (NGS) Technology |
| Specialty | Neurology and Genetics |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create a detailed family pedigree
- Discussion of testing implications with healthcare providers
- Understanding of potential psychological and emotional impacts
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and neurologists ensures you receive comprehensive care regardless of your location.
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. The CSTB Gene Unverricht-Lundborg Disease NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. Our team of genetic specialists is ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take the first step toward understanding your neurological health with confidence and precision.
