NDUFA10 Gene Leigh Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The NDUFA10 Gene Leigh Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for mitochondrial disorders. This advanced genetic test specifically targets the NDUFA10 gene, which plays a critical role in mitochondrial complex I function – the 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 delays and life-threatening complications.
What Does This Test Measure and Detect?
This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the NDUFA10 gene for pathogenic variants associated with Leigh syndrome. The test detects:
- Point mutations, deletions, and insertions in the NDUFA10 gene
- Variants affecting mitochondrial complex I assembly and function
- Genetic changes responsible for impaired oxidative phosphorylation
- Mutations leading to energy production deficiencies in cells
- Inherited and de novo genetic variants causing neurological symptoms
Who Should Consider This Test?
This genetic test is particularly important for individuals presenting with symptoms suggestive of mitochondrial disorders or Leigh syndrome, including:
- Infants and children with developmental regression or delay
- Patients experiencing progressive neurological deterioration
- Individuals with muscle weakness, hypotonia, or movement disorders
- Those with respiratory problems, especially during illness
- Patients with lactic acidosis or other metabolic abnormalities
- Individuals with family history of mitochondrial disorders
- Children with failure to thrive and feeding difficulties
- Patients with seizures or epilepsy of unknown origin
Key Benefits of NDUFA10 Genetic Testing
Undergoing the NDUFA10 Gene Leigh Syndrome NGS Genetic DNA Test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive genetic confirmation of Leigh syndrome
- Family Planning: Enables informed reproductive decisions for at-risk families
- Personalized Treatment: Guides targeted therapeutic approaches and management strategies
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely implementation of supportive care measures
- Genetic Counseling: Supports comprehensive family genetic risk assessment
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your NDUFA10 gene test results:
- Positive Result: Indicates the presence of a pathogenic variant in the NDUFA10 gene, confirming the genetic basis of symptoms
- Negative Result: Suggests that NDUFA10 mutations are not the cause of symptoms, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | NDUFA10 Gene Leigh Syndrome 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
Before undergoing the NDUFA10 Gene Leigh Syndrome NGS Genetic DNA Test, patients should complete:
- Comprehensive clinical history documentation
- Genetic counseling session with certified genetic counselor
- Development of detailed pedigree chart documenting family members affected with neurological symptoms
- Review of previous medical evaluations and test results
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take the Next Step Toward Genetic Clarity
If you or your loved one is experiencing symptoms suggestive of Leigh syndrome or other mitochondrial disorders, don’t wait to get answers. Our specialized NDUFA10 genetic testing 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 today at +1(267) 388-9828 to book your NDUFA10 Gene Leigh Syndrome NGS Genetic DNA Test and take control of your genetic health.
