OPTN Gene Amyotrophic Lateral Sclerosis Type 12 NGS Genetic DNA Test
Comprehensive Introduction to OPTN Gene ALS Testing
The OPTN Gene Amyotrophic Lateral Sclerosis Type 12 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. Amyotrophic Lateral Sclerosis (ALS), commonly known as Lou Gehrig’s disease, is a progressive neurodegenerative disorder affecting motor neurons. Type 12 ALS specifically involves mutations in the OPTN (optineurin) gene, which plays a crucial role in protein degradation and cellular quality control mechanisms.
This advanced diagnostic tool is essential for individuals with suspected hereditary ALS or those with family history of motor neuron diseases. Early identification of OPTN gene mutations enables proactive medical management and informed family planning decisions. The test’s importance extends beyond diagnosis, providing valuable insights for personalized treatment strategies and genetic counseling.
What the Test Measures and Detects
The OPTN Gene ALS Type 12 NGS Genetic DNA Test utilizes state-of-the-art Next-Generation Sequencing (NGS) technology to comprehensively analyze the entire OPTN gene. This sophisticated approach detects:
- Point mutations and single nucleotide variants in the OPTN gene
- Insertions and deletions affecting gene function
- Copy number variations and structural alterations
- Pathogenic variants associated with ALS Type 12 development
- Novel mutations that may contribute to disease progression
The test provides 99.9% accuracy in mutation detection, ensuring reliable results for clinical decision-making. Unlike traditional genetic testing methods, NGS technology offers comprehensive coverage of the entire gene, minimizing the risk of missing critical mutations.
Who Should Consider This Test
This genetic test is particularly recommended for individuals experiencing:
Clinical Symptoms
- Progressive muscle weakness and atrophy
- Difficulty with speech and swallowing
- Muscle twitching and cramping
- Impaired motor coordination
- Respiratory difficulties in advanced stages
Family History Indicators
- First-degree relatives diagnosed with ALS
- Family history of early-onset neurological disorders
- Multiple family members with motor neuron diseases
- Unexplained neurological symptoms in family members
Risk Assessment Candidates
- Individuals with known OPTN gene mutations in family
- Patients with atypical ALS presentations
- Those seeking pre-symptomatic testing due to family history
Benefits of Taking the OPTN Gene ALS Test
Undergoing the OPTN Gene Amyotrophic Lateral Sclerosis Type 12 NGS Genetic DNA Test offers numerous advantages:
- Early Diagnosis: Enables early intervention and treatment planning before significant neurological damage occurs
- Personalized Treatment: Guides targeted therapeutic approaches based on specific genetic mutations
- Family Planning: Provides crucial information for reproductive decisions and genetic counseling
- Prognostic Information: Helps predict disease progression and expected clinical course
- Clinical Trial Eligibility: Opens opportunities for participation in cutting-edge ALS research studies
- Peace of Mind: Reduces uncertainty for at-risk individuals and their families
Understanding Your Test Results
Your OPTN Gene ALS Type 12 test results will fall into one of several categories, each with specific implications:
Positive Result
A positive result indicates the presence of a pathogenic mutation in the OPTN gene associated with ALS Type 12. This finding:
- Confirms genetic predisposition to ALS Type 12
- Enables proactive monitoring and early intervention
- Provides information for family member testing
- Guides personalized treatment strategies
Negative Result
A negative result suggests no detectable mutations in the OPTN gene. However:
- Does not completely rule out ALS risk from other genetic factors
- May indicate lower genetic predisposition to OPTN-related ALS
- Should be interpreted in clinical context with neurological evaluation
Variant of Uncertain Significance (VUS)
Some results may identify genetic changes with unknown clinical significance. In such cases:
- Additional family studies may be recommended
- Ongoing research may provide future clarity
- Clinical correlation with symptoms is essential
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | OPTN Gene Amyotrophic Lateral Sclerosis Type 12 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Accessibility
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, San Jose, and many other cities. Our network ensures accessible genetic testing services regardless of your location.
Take Control of Your Neurological Health
Don’t wait to get the answers you need about your genetic risk for ALS Type 12. Our comprehensive OPTN gene testing provides the clarity and information necessary for informed healthcare decisions. With our discounted price of $500 USD and nationwide availability, there’s no better time to take this important step toward understanding your neurological health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or book your test online. Our genetic counselors are available to answer your questions and guide you through the testing process.
Early detection through genetic testing can make a significant difference in managing neurological conditions. Trust our expertise in neurological genetics to provide you with accurate, reliable results and comprehensive support throughout your testing journey.
