SDHA Gene Leigh Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The SDHA Gene Leigh Syndrome NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations in the SDHA gene associated with Leigh syndrome. This progressive neurological disorder affects the central nervous system and can have devastating consequences if left undiagnosed. Our advanced testing methodology provides healthcare providers and patients with critical information for making informed medical decisions and developing targeted treatment strategies.
What Does This Test Measure and Detect?
This comprehensive genetic test utilizes next-generation sequencing (NGS) technology to analyze the entire SDHA gene for pathogenic variants. The test specifically detects:
- Point mutations in the SDHA gene coding regions
- Small insertions and deletions affecting gene function
- Copy number variations impacting SDHA expression
- Pathogenic variants affecting mitochondrial complex II function
- Inheritance patterns of SDHA-related disorders
The SDHA gene encodes succinate dehydrogenase complex flavoprotein subunit A, a critical component of mitochondrial complex II in the electron transport chain. Mutations in this gene disrupt cellular energy production, leading to the characteristic symptoms of Leigh syndrome.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with the following symptoms or clinical scenarios:
- Infants and children showing developmental regression or delay
- Patients experiencing progressive neurological deterioration
- Individuals with unexplained lactic acidosis
- Patients with characteristic brain MRI findings suggestive of Leigh syndrome
- Family history of mitochondrial disorders or Leigh syndrome
- Unexplained seizures or movement disorders in childhood
- Progressive muscle weakness and coordination problems
- Feeding difficulties and failure to thrive in infants
Key Benefits of SDHA Gene Testing
Undergoing the SDHA Gene Leigh Syndrome NGS Genetic DNA Test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive genetic confirmation of SDHA-related Leigh syndrome
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Offers crucial information for reproductive decision-making
- Prognostic Information: Helps predict disease progression and potential complications
- Genetic Counseling: Supports informed family risk assessment and management
- Research Contribution: Contributes to advancing understanding of mitochondrial disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your test results effectively:
- Positive Result: Indicates the presence of pathogenic SDHA mutations, confirming Leigh syndrome diagnosis and guiding treatment approaches
- Negative Result: Suggests absence of detectable SDHA mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation and family studies
- Carrier Status: Determines if individuals carry SDHA mutations 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 Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-test Requirements: Clinical History and Genetic Counseling Session
Nationwide Testing Availability
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 state-of-the-art facilities ensure consistent, high-quality testing standards regardless of location.
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. The SDHA Gene Leigh Syndrome NGS Genetic DNA Test provides the clarity needed for effective medical management and family planning. Our team of neurological genetics specialists and certified genetic counselors are ready to support you through every step of the testing process.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Early detection through comprehensive genetic testing can make a significant difference in managing neurological conditions and improving long-term outcomes.
