MT-ND6 Gene Leigh Syndrome Due to Mitochondrial Complex I Deficiency NGS Genetic DNA Test
Understanding MT-ND6 Gene Leigh Syndrome
MT-ND6 Gene Leigh Syndrome represents a rare but devastating neurological condition caused by mutations in the mitochondrial MT-ND6 gene. This gene plays a crucial role in mitochondrial complex I, the first enzyme complex in the mitochondrial respiratory chain responsible for cellular energy production. When mutations occur in the MT-ND6 gene, they disrupt the normal function of complex I, leading to impaired energy metabolism in cells throughout the body, particularly affecting the brain and nervous system.
The Critical Role of Mitochondrial Complex I
Mitochondrial complex I, also known as NADH:ubiquinone oxidoreductase, serves as the entry point for electrons into the mitochondrial respiratory chain. The MT-ND6 gene encodes one of the seven core subunits of complex I that are essential for its proper assembly and function. When this complex fails to function correctly, cells cannot produce sufficient ATP (adenosine triphosphate), the primary energy currency of cells, leading to progressive neurological deterioration characteristic of Leigh syndrome.
What This Advanced Genetic Test Detects
Our comprehensive NGS Genetic DNA Test specifically targets and analyzes the MT-ND6 gene for pathogenic mutations that cause mitochondrial complex I deficiency. The test utilizes next-generation sequencing technology to provide:
- Complete sequencing of the MT-ND6 mitochondrial gene
- Detection of point mutations, deletions, and insertions
- Identification of heteroplasmic mutations (mixed mitochondrial DNA populations)
- Assessment of mutation load percentage in affected tissues
- Comprehensive analysis of mitochondrial DNA integrity
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of mitochondrial disease or Leigh syndrome, including:
- Infants and children with progressive neurological regression
- Patients experiencing developmental delay or loss of milestones
- Individuals with unexplained seizures or epilepsy
- Patients with muscle weakness, hypotonia, or movement disorders
- Children with feeding difficulties, vomiting, or failure to thrive
- Individuals with optic atrophy, nystagmus, or other visual disturbances
- Patients with respiratory abnormalities or irregular breathing patterns
- Those with a family history of mitochondrial disorders
Clinical Indications for Testing
Healthcare providers should consider ordering this test when patients present with characteristic features of Leigh syndrome, including symmetrical brain lesions visible on MRI, elevated lactate levels in blood or cerebrospinal fluid, and clinical symptoms affecting multiple organ systems, particularly the central nervous system.
Significant Benefits of Early Genetic Testing
Undergoing the MT-ND6 Gene Leigh Syndrome NGS Genetic DNA Test provides numerous critical advantages:
- Accurate Diagnosis: Provides definitive molecular diagnosis, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted therapeutic interventions and management strategies
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and anticipate complications
- Clinical Trial Eligibility: May qualify patients for emerging treatments and research studies
- Reduced Diagnostic Odyssey: Minimizes unnecessary testing and medical procedures
Understanding Your Test Results
Our comprehensive genetic counseling team will help you interpret your test results with the following general guidance:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic mutation in the MT-ND6 gene. This confirms the genetic basis for mitochondrial complex I deficiency and Leigh syndrome. Our genetic counselors will provide detailed explanations about the specific mutation, its inheritance pattern (maternal inheritance for mitochondrial DNA), and implications for family members.
Negative Result Interpretation
A negative result suggests that no pathogenic mutations were detected in the MT-ND6 gene. However, this does not completely rule out mitochondrial disease, as mutations in other mitochondrial or nuclear genes could be responsible. Further testing may be recommended based on clinical presentation.
Variant of Uncertain Significance
In some cases, the test may identify genetic changes whose clinical significance is currently unknown. Our team will provide guidance on monitoring and potential follow-up testing as scientific knowledge evolves.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Neurology and Genetics
- Disease Category: Neurological Disorders
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Scheduled genetic counseling session
- Prepared pedigree chart of family members affected with similar symptoms
- Recent neurological evaluation and imaging studies
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, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take Action Today for Genetic Clarity
Don’t let diagnostic uncertainty delay proper care and management. Our specialized genetic testing provides the answers you need to make informed healthcare decisions. With our advanced NGS technology and expert genetic counseling support, you can gain valuable insights into your genetic health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your MT-ND6 Gene Leigh Syndrome NGS Genetic DNA Test and take the first step toward genetic clarity and personalized medical management.
