GOSR2 Gene Progressive Myoclonus Epilepsy Type 6 NGS Genetic DNA Test
Comprehensive Genetic Testing for Progressive Myoclonus Epilepsy
The GOSR2 Gene Progressive Myoclonus Epilepsy Type 6 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test utilizes next-generation sequencing technology to analyze the GOSR2 gene, which plays a critical role in neurological function and development. Progressive myoclonus epilepsy type 6 is a rare inherited neurological disorder characterized by myoclonic seizures, ataxia, and progressive neurological deterioration. Early and accurate genetic diagnosis is essential for proper management and treatment planning.
What Does This Test Measure and Detect?
This comprehensive genetic test specifically targets mutations in the GOSR2 gene using sophisticated next-generation sequencing technology. The test detects:
- Pathogenic variants in the GOSR2 gene associated with progressive myoclonus epilepsy type 6
- Single nucleotide polymorphisms (SNPs) and copy number variations (CNVs)
- Missense, nonsense, and frameshift mutations affecting protein function
- Genetic markers that influence disease progression and severity
- Inheritance patterns for family planning and genetic counseling
Who Should Consider This Genetic Test?
This test is recommended for individuals experiencing symptoms suggestive of progressive myoclonus epilepsy type 6, including:
- Patients with unexplained myoclonic seizures or jerking movements
- Individuals experiencing progressive ataxia or coordination difficulties
- Patients with family history of progressive myoclonus epilepsy
- Children or adults with developmental regression and seizure activity
- Individuals with unexplained neurological deterioration
- Patients with suspected genetic epilepsy syndromes
Key Benefits of GOSR2 Genetic Testing
Undergoing the GOSR2 Gene Progressive Myoclonus Epilepsy Type 6 NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of progressive myoclonus epilepsy type 6
- Personalized Treatment: Enables targeted therapeutic approaches based on specific genetic mutations
- Family Planning: Offers valuable information for genetic counseling and family planning decisions
- Early Intervention: Facilitates early intervention strategies to manage symptoms effectively
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Contributes to ongoing research in neurological genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you understand your test results:
- Positive Result: Indicates the presence of pathogenic GOSR2 gene mutations associated with progressive myoclonus epilepsy type 6
- Negative Result: Suggests no detectable mutations in the GOSR2 gene, though other genetic or non-genetic causes should be considered
- Variant of Uncertain Significance: Some genetic changes may require additional family studies for interpretation
- Carrier Status: Identifies individuals who carry the mutation but may not show symptoms
All results are reviewed by board-certified geneticists and neurologists to ensure accurate interpretation and appropriate follow-up recommendations.
Test Pricing and Information
| Test Component | Details |
|---|---|
| Test Name | GOSR2 Gene Progressive Myoclonus Epilepsy Type 6 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 |
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history including neurological symptoms and progression
- Participation in genetic counseling session to create detailed family pedigree
- Documentation of affected family members with similar neurological conditions
- Current medication list and previous diagnostic test results
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take Control of Your Neurological Health Today
Don’t let uncertainty about your neurological symptoms affect your quality of life. The GOSR2 Gene Progressive Myoclonus Epilepsy Type 6 NGS Genetic DNA Test provides the clarity you need for informed medical decisions. Our team of genetic specialists and neurologists is ready to support you through every step of the testing process.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take the first step toward understanding your genetic health and accessing personalized neurological care.
