POLG2 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 4 Autosomal Dominant NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The POLG2 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 4 Autosomal Dominant NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying rare mitochondrial disorders. This specialized test focuses on the POLG2 gene, which plays a critical role in mitochondrial DNA replication and maintenance. Progressive external ophthalmoplegia (PEO) is a neurological condition characterized by progressive weakness of the eye muscles, leading to eyelid drooping and limited eye movement.
What This Advanced Genetic Test Measures
Our NGS-based genetic test specifically detects:
- Mutations in the POLG2 gene associated with mitochondrial DNA deletions
- Autosomal dominant inheritance patterns of progressive external ophthalmoplegia
- Specific genetic variants responsible for Type 4 mitochondrial disorder
- DNA sequence abnormalities affecting mitochondrial polymerase function
- Genetic markers indicating increased risk for neurological complications
Who Should Consider This Genetic Test?
This comprehensive genetic evaluation is recommended for individuals experiencing:
- Progressive eyelid drooping (ptosis) that worsens over time
- Difficulty moving eyes in all directions
- Family history of mitochondrial disorders or progressive external ophthalmoplegia
- Unexplained muscle weakness, particularly around the eyes
- Diagnosed mitochondrial disease requiring genetic confirmation
- Neurological symptoms consistent with POLG2-related disorders
Significant Benefits of Genetic Testing
Undergoing the POLG2 gene test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out POLG2-related progressive external ophthalmoplegia
- Family Planning: Enables informed reproductive decisions for affected families
- Early Intervention: Facilitates timely management of symptoms and complications
- Personalized Treatment: Guides development of targeted therapeutic approaches
- Genetic Counseling: Provides basis for comprehensive family genetic counseling
- Research Contribution: Contributes to advancing understanding of mitochondrial disorders
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your POLG2 gene test results:
- Positive Result: Indicates presence of POLG2 gene mutation associated with progressive external ophthalmoplegia
- Negative Result: Suggests absence of tested POLG2 mutations, though other genetic causes may exist
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for family members and reproductive planning
All results are accompanied by comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including 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.
Pre-Test Requirements
Before scheduling your POLG2 gene test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of test implications with healthcare provider
- Understanding of potential outcomes and their significance
Take Control of Your Genetic Health Today
Don’t let uncertainty about mitochondrial disorders affect your quality of life. Our POLG2 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 4 Autosomal Dominant NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic testing with confidence.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing your family’s future.
