RNASEH1 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2 Autosomal Recessive NGS Genetic DNA Test
Understanding Progressive External Ophthalmoplegia and RNASEH1 Gene Testing
Progressive External Ophthalmoplegia (PEO) with mitochondrial DNA deletions represents a significant group of mitochondrial disorders characterized by the gradual weakening of eye muscles and associated neurological symptoms. The RNASEH1 gene plays a critical role in mitochondrial DNA replication and maintenance, and mutations in this gene can lead to autosomal recessive forms of PEO. Our advanced NGS Genetic DNA Test provides comprehensive analysis of the RNASEH1 gene to identify pathogenic variants responsible for this debilitating condition.
What Does the RNASEH1 Gene Test Measure?
This sophisticated genetic test utilizes Next-Generation Sequencing (NGS) technology to thoroughly examine the RNASEH1 gene for mutations associated with Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2. The test specifically detects:
- Pathogenic variants in the RNASEH1 gene that disrupt mitochondrial DNA replication
- Autosomal recessive inheritance patterns requiring mutations from both parents
- Genetic markers associated with mitochondrial DNA instability and deletions
- Specific nucleotide changes that impair RNASE H1 enzyme function
- Variants affecting mitochondrial genome maintenance and energy production
Who Should Consider RNASEH1 Genetic Testing?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with symptoms suggestive of mitochondrial disorders, particularly:
- Progressive drooping of eyelids (ptosis) that worsens over time
- Difficulty moving eyes in all directions (ophthalmoplegia)
- Generalized muscle weakness and exercise intolerance
- Chronic fatigue and reduced physical endurance
- Family history of mitochondrial disorders or consanguineous parents
- Onset of symptoms in childhood or early adulthood
- Additional neurological symptoms including ataxia or peripheral neuropathy
Comprehensive Benefits of RNASEH1 Genetic Testing
Undergoing RNASEH1 gene testing provides numerous advantages for patients and their families:
- Definitive Diagnosis: Confirms or rules out RNASEH1-related PEO with mitochondrial deletions
- Personalized Treatment Planning: Enables targeted management strategies for mitochondrial dysfunction
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Facilitates timely implementation of supportive therapies and lifestyle modifications
- Disease Progression Monitoring: Establishes baseline for tracking disease evolution
- Research Contribution: Advances understanding of mitochondrial disorders and potential treatments
Understanding Your Test Results
Interpretation Guidelines
Your RNASEH1 genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Identification of pathogenic variants in both RNASEH1 alleles confirms diagnosis of autosomal recessive PEO with mitochondrial deletions
- Negative Result: No pathogenic variants detected, suggesting alternative causes for symptoms
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identification of a single pathogenic variant indicating carrier status without disease manifestation
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | RNASEH1 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2 Autosomal Recessive 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements and Preparation
To ensure accurate testing and comprehensive care, we require:
- Complete clinical history of the patient including symptom progression and family medical background
- Genetic counseling session to create detailed pedigree chart documenting affected family members
- Discussion of test implications, potential outcomes, and psychological preparation
- Informed consent understanding the benefits and limitations of genetic testing
Nationwide Testing Availability
We proudly offer RNASEH1 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 state-of-the-art laboratories ensure consistent, high-quality testing regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about mitochondrial disorders affect your quality of life. Our RNASEH1 genetic test provides the clarity needed for proper diagnosis and management of Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2. With our discounted price of $500 USD and comprehensive genetic counseling support, you can make informed decisions about your health and future.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your RNASEH1 genetic test. Our dedicated team is ready to guide you through every step of the testing process and provide the expert care you deserve.
