SLC25A4 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2 Autosomal Dominant NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The SLC25A4 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2 Autosomal Dominant NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the SLC25A4 gene, which encodes the adenine nucleotide translocator 1 (ANT1) protein crucial for mitochondrial function. When this gene malfunctions, it leads to progressive external ophthalmoplegia (PEO) with mitochondrial DNA deletions, a condition that significantly impacts muscle function and overall energy metabolism.
What This Test Measures and Detects
Our state-of-the-art NGS genetic DNA test provides comprehensive analysis of:
- Complete sequencing of the SLC25A4 gene to identify pathogenic variants
- Detection of autosomal dominant mutations affecting mitochondrial DNA maintenance
- Identification of specific genetic alterations causing progressive external ophthalmoplegia
- Assessment of mitochondrial deletion patterns associated with type 2 PEO
- Evaluation of genetic markers for mitochondrial myopathy progression
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals experiencing:
- Progressive weakness of eye muscles (ophthalmoplegia)
- Drooping eyelids (ptosis) that worsens over time
- Unexplained muscle weakness and fatigue
- Family history of mitochondrial disorders
- Diagnosed progressive external ophthalmoplegia requiring genetic confirmation
- Symptoms of mitochondrial myopathy without clear diagnosis
- Neurological symptoms accompanied by exercise intolerance
Clinical Benefits of SLC25A4 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out SLC25A4-related progressive external ophthalmoplegia
- Family Planning Guidance: Identifies autosomal dominant inheritance patterns for genetic counseling
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management of mitochondrial dysfunction
- Genetic Counseling: Provides essential information for at-risk family members
Understanding Your Test Results
Our comprehensive genetic report includes:
- Positive Result: Indicates the presence of pathogenic SLC25A4 mutations, confirming progressive external ophthalmoplegia diagnosis
- Negative Result: Suggests absence of detectable SLC25A4 mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Detailed Interpretation: Expert analysis of genetic findings and clinical implications
- Follow-up Recommendations: Guidance for additional testing or specialist consultations
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing facilities ensures accessibility and consistent quality standards nationwide.
Take Control of Your Genetic Health
Don’t let uncertainty about mitochondrial disorders affect your quality of life. Our SLC25A4 genetic test provides the clarity needed for informed medical decisions and personalized care planning. With results typically available within 3-4 weeks and sample collection options including blood, extracted DNA, or FTA card blood drops, getting tested has never been more convenient.
Ready to begin your genetic health journey? Contact our genetic specialists today at +1(267) 388-9828 to schedule your consultation and testing appointment. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
