NDUFA12 Gene Leigh Syndrome Due to Mitochondrial Complex I Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The NDUFA12 Gene Leigh Syndrome Due to Mitochondrial Complex I Deficiency NGS Genetic DNA Test represents a breakthrough in diagnostic precision for mitochondrial diseases. This advanced genetic analysis specifically targets mutations in the NDUFA12 gene, which plays a critical role in mitochondrial complex I function. Mitochondrial complex I deficiency is a significant cause of Leigh syndrome, a progressive neurological disorder that primarily affects the central nervous system.
What This Test Measures and Detects
This sophisticated NGS-based test comprehensively analyzes the NDUFA12 gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the NDUFA12 gene
- Pathogenic variants associated with mitochondrial complex I deficiency
- Genetic markers linked to Leigh syndrome development
Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with:
- Progressive neurological deterioration in infancy or childhood
- Developmental regression following periods of normal development
- Seizures, muscle weakness, or movement disorders
- Respiratory abnormalities and feeding difficulties
- Family history of mitochondrial disorders or Leigh syndrome
- Unexplained metabolic acidosis or elevated lactate levels
- Abnormal brain imaging findings characteristic of Leigh syndrome
Clinical Benefits of Genetic Testing
Undergoing the NDUFA12 gene test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out NDUFA12-related mitochondrial disease
- Personalized Treatment: Guides targeted therapeutic interventions
- Family Planning: Enables informed reproductive decisions
- Prognostic Information: Helps predict disease progression and outcomes
- Early Intervention: Facilitates timely management of symptoms
- Genetic Counseling: Provides basis for comprehensive family risk assessment
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your NDUFA12 gene test results:
Positive Result
A positive result indicates the presence of pathogenic mutations in the NDUFA12 gene, confirming the genetic basis for mitochondrial complex I deficiency and Leigh syndrome. This finding enables:
- Confirmation of clinical diagnosis
- Implementation of appropriate mitochondrial disease management
- Family member testing and genetic counseling
- Access to specialized neurological care
Negative Result
A negative result suggests that NDUFA12 gene mutations are not the cause of the patient’s symptoms. This outcome helps:
- Exclude NDUFA12-related disorders from differential diagnosis
- Guide further diagnostic evaluation for other genetic causes
- Focus medical investigations on alternative mitochondrial genes
- Provide reassurance for family planning decisions
Variant of Uncertain Significance (VUS)
When a genetic change of unknown clinical significance is detected, our team provides:
- Detailed explanation of the variant’s characteristics
- Recommendations for additional family member testing
- Guidance on clinical correlation and monitoring
- Regular updates as new research emerges
Test Information and Pricing
| Test Details | Information |
|---|---|
| Test Name | NDUFA12 Gene Leigh Syndrome Due to Mitochondrial Complex I Deficiency 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 |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our specialists
- Development of detailed family pedigree chart
- Review of previous neurological evaluations and test results
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, and many more. Our network of certified genetic testing facilities ensures accessibility and convenience for patients nationwide.
Take the Next Step Toward Diagnosis
If you or your loved one is experiencing symptoms suggestive of mitochondrial disease or Leigh syndrome, don’t delay in seeking answers. Our NDUFA12 gene test provides the clarity needed for proper diagnosis and management. Contact our genetic specialists today to schedule your test and begin your journey toward understanding and managing mitochondrial disorders.
Call or WhatsApp us now at +1(267) 388-9828 to book your NDUFA12 Gene Leigh Syndrome Due to Mitochondrial Complex I Deficiency NGS Genetic DNA Test and take control of your neurological health.
