RRM2B Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 5 Autosomal Dominant NGS Genetic DNA Test
Understanding RRM2B Gene Progressive External Ophthalmoplegia
Progressive External Ophthalmoplegia (PEO) with mitochondrial DNA deletions represents a significant group of mitochondrial disorders characterized by the gradual inability to move the eyes and associated muscle weakness. The RRM2B gene plays a critical role in mitochondrial DNA maintenance and replication, making mutations in this gene particularly impactful for cellular energy production.
This autosomal dominant condition means that only one copy of the mutated gene is sufficient to cause the disorder, making family history an essential component of diagnosis and management. Our advanced NGS Genetic DNA Test provides comprehensive analysis of the RRM2B gene, offering patients and healthcare providers definitive diagnostic information for this complex neurological condition.
What This Test Measures and Detects
Our specialized genetic test employs cutting-edge Next-Generation Sequencing technology to thoroughly analyze the RRM2B gene for:
- Pathogenic mutations associated with mitochondrial DNA depletion syndrome
- Autosomal dominant inheritance patterns specific to PEO type 5
- Genetic variants affecting mitochondrial DNA maintenance
- Mutations impacting ribonucleotide reductase regulatory TP53-inducible subunit M2B
- Genetic markers for progressive external ophthalmoplegia with multiple mitochondrial DNA deletions
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
Individuals experiencing the following symptoms should consider RRM2B genetic testing:
- Progressive limitation of eye movements (ophthalmoplegia)
- Drooping eyelids (ptosis) that worsens over time
- Generalized muscle weakness and fatigue
- Exercise intolerance and reduced physical stamina
- Family history of mitochondrial disorders
- Neurological symptoms including ataxia or peripheral neuropathy
- Early-onset progressive external ophthalmoplegia
- Suspected autosomal dominant inheritance pattern of mitochondrial disease
Benefits of RRM2B Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Definitive Diagnosis: Confirm or rule out RRM2B-related progressive external ophthalmoplegia
- Personalized Treatment Planning: Develop targeted management strategies based on genetic findings
- Family Planning Guidance: Understand inheritance risks for future generations
- Early Intervention: Implement appropriate therapies before significant symptom progression
- Genetic Counseling: Provide accurate information for family members regarding carrier status
- Research Contribution: Help advance understanding of mitochondrial disorders
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your RRM2B test results:
Positive Result
A positive result indicates the presence of a pathogenic mutation in the RRM2B gene. This confirms the diagnosis of progressive external ophthalmoplegia with mitochondrial DNA deletions type 5. Our genetic counselors will provide detailed explanations of what this means for your health management and family planning decisions.
Negative Result
A negative result suggests that no pathogenic mutations were detected in the RRM2B gene. However, this does not completely rule out mitochondrial disorders, as other genetic causes may be responsible for your symptoms. Further testing or clinical evaluation may be recommended.
Variant of Uncertain Significance
Some genetic changes may be classified as variants of uncertain significance. These require additional clinical correlation and possibly family studies to determine their clinical relevance.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | RRM2B Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 5 Autosomal Dominant 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 |
| Specialty | Neurology and Genetics |
Pre-Test Requirements
To ensure accurate testing and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of affected family members with similar symptoms
- Neurological examination findings
Nationwide Testing Availability
We proudly offer RRM2B genetic testing services across the United States with convenient locations in all 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 healthcare professionals ensures you receive comprehensive support regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about mitochondrial disorders affect your quality of life. Our RRM2B genetic test provides the clarity you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can take the first step toward understanding your genetic health.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Early diagnosis through genetic testing can significantly impact treatment outcomes and quality of life for individuals with progressive external ophthalmoplegia. Trust our experienced team to provide the accurate genetic information you need for better health management.
