MT-ND5 Gene Leigh Syndrome Due to Mitochondrial Complex I Deficiency NGS Genetic DNA Test
Understanding MT-ND5 Gene Leigh Syndrome Testing
The MT-ND5 Gene Leigh Syndrome NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the MT-ND5 gene that cause mitochondrial complex I deficiency. This sophisticated testing approach utilizes next-generation sequencing technology to provide comprehensive analysis of mitochondrial DNA, offering crucial insights for families affected by this rare but devastating neurological condition.
What is Mitochondrial Complex I Deficiency?
Mitochondrial complex I deficiency is a severe metabolic disorder that disrupts the body’s primary energy production system. The MT-ND5 gene encodes a critical component of complex I in the mitochondrial respiratory chain, which is essential for generating cellular energy. When mutations occur in this gene, they impair the function of complex I, leading to insufficient energy production in cells throughout the body, particularly affecting the brain and nervous system.
What the Test Measures and Detects
This advanced genetic test specifically targets:
- Comprehensive analysis of the MT-ND5 gene for pathogenic mutations
- Detection of mitochondrial DNA variants associated with complex I deficiency
- Identification of both inherited and spontaneous mutations
- Assessment of mutation load and heteroplasmy levels
- Evaluation of genetic markers linked to Leigh syndrome development
Who Should Consider This Test
This test is particularly recommended for individuals presenting with:
- Infants and children showing developmental regression or delay
- Neurological symptoms including seizures, ataxia, or muscle weakness
- Metabolic abnormalities such as lactic acidosis
- Family history of mitochondrial disorders or Leigh syndrome
- Unexplained neurological deterioration in childhood
- Progressive brainstem and basal ganglia involvement
- Respiratory chain enzyme deficiency findings
Benefits of Taking the MT-ND5 Genetic Test
- Early and Accurate Diagnosis: Provides definitive diagnosis for complex neurological symptoms
- Treatment Guidance: Helps direct appropriate therapeutic interventions
- Family Planning: Enables informed reproductive decisions for at-risk families
- Prognostic Information: Offers insights into disease progression and management
- Genetic Counseling: Supports comprehensive family risk assessment
- Research Contribution: Advances understanding of mitochondrial disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and neurologists:
- Positive Result: Indicates the presence of MT-ND5 mutations associated with complex I deficiency, confirming Leigh syndrome diagnosis
- Negative Result: Suggests that MT-ND5 mutations are not the cause of symptoms, though other genetic testing may be recommended
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Heteroplasmy Level: Measures the percentage of mutated mitochondrial DNA, which can influence disease severity
All results include comprehensive genetic counseling to ensure proper understanding and next steps.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | MT-ND5 Gene Leigh Syndrome Due to Mitochondrial Complex I Deficiency 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 scheduling your test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Neurological evaluation and relevant medical records
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic testing facilities ensures accessible, reliable testing for families nationwide.
Take Action Today
Don’t wait to get answers about complex neurological symptoms. Early diagnosis of MT-ND5 related Leigh syndrome can significantly impact treatment outcomes and quality of life. Our team of genetic specialists and neurologists is ready to provide comprehensive testing and support.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your MT-ND5 Genetic DNA Test or to speak with our genetic counseling team. Take the first step toward understanding and managing mitochondrial complex I deficiency with confidence.
