NDUFA2 Gene Leigh Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The NDUFA2 Gene Leigh Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for mitochondrial disorders. This advanced genetic test specifically targets the NDUFA2 gene, which plays a critical role in mitochondrial complex I function – the first and largest enzyme complex in the mitochondrial respiratory chain. Leigh syndrome, also known as subacute necrotizing encephalomyelopathy, is a progressive neurological disorder that typically manifests in infancy or early childhood and can lead to severe developmental regression and life-threatening complications.
What This Test Measures and Detects
This comprehensive genetic analysis utilizes Next-Generation Sequencing (NGS) technology to examine the entire coding region of the NDUFA2 gene for pathogenic variants. The test specifically identifies:
- Point mutations, insertions, and deletions in the NDUFA2 gene
- Variants affecting mitochondrial complex I assembly and function
- Genetic changes that disrupt cellular energy production
- Inherited and de novo mutations associated with Leigh syndrome
- Carrier status for autosomal recessive inheritance patterns
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of mitochondrial disorders, particularly:
- Infants and children with developmental regression or delay
- Patients exhibiting neurological symptoms including seizures, ataxia, or dystonia
- Individuals with unexplained lactic acidosis or metabolic abnormalities
- Children with failure to thrive and feeding difficulties
- Patients with family history of Leigh syndrome or mitochondrial disorders
- Individuals with abnormal brain MRI findings characteristic of Leigh syndrome
Clinical Benefits of NDUFA2 Genetic Testing
Undergoing the NDUFA2 Gene Leigh Syndrome NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Provides definitive molecular confirmation of Leigh syndrome
- Early Intervention: Enables timely implementation of appropriate treatments
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides targeted therapeutic approaches and management strategies
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Contributes to ongoing understanding of mitochondrial disorders
Understanding Your Test Results
Our comprehensive genetic counseling team will help you interpret your NDUFA2 Gene Leigh Syndrome NGS Genetic DNA Test results:
- Positive Result: Indicates the presence of pathogenic variants in the NDUFA2 gene, confirming the diagnosis of Leigh syndrome
- Negative Result: No disease-causing variants detected in the NDUFA2 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but typically do not show symptoms
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | NDUFA2 Gene Leigh Syndrome 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
Before undergoing the NDUFA2 Gene Leigh Syndrome NGS Genetic DNA Test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Development of a detailed pedigree chart documenting affected family members
- Discussion of potential outcomes and their impact on family planning
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and neurologists ensures you receive comprehensive care regardless of your location.
Take the Next Step Toward Diagnosis
If you or your loved one is experiencing symptoms suggestive of Leigh syndrome or other mitochondrial disorders, don’t wait to get answers. Our NDUFA2 Gene Leigh Syndrome NGS Genetic DNA 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 this complex condition.
Call or WhatsApp us now at +1(267) 388-9828 to book your NDUFA2 Gene Leigh Syndrome NGS Genetic DNA Test and take control of your neurological health.
