PDHA1 Gene Leigh Syndrome X-Linked NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The PDHA1 Gene Leigh Syndrome X-Linked NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations in the PDHA1 gene responsible for X-linked Leigh syndrome. This severe mitochondrial disorder affects the central nervous system and requires accurate genetic confirmation for proper management and treatment planning.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based test specifically targets the PDHA1 gene located on the X chromosome, which encodes the E1 alpha subunit of the pyruvate dehydrogenase complex. This critical enzyme complex plays a vital role in cellular energy production through the conversion of pyruvate to acetyl-CoA. The test detects:
- Point mutations, deletions, and insertions in the PDHA1 gene
- X-linked inheritance patterns affecting mitochondrial function
- Genetic variants associated with pyruvate dehydrogenase deficiency
- Mutations leading to impaired energy metabolism in brain cells
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of Leigh syndrome or mitochondrial disorders, including:
- Infants and children experiencing developmental regression
- Patients with progressive neurological deterioration
- Individuals with lactic acidosis and metabolic abnormalities
- Those showing brainstem and basal ganglia lesions on MRI
- Family history of X-linked neurological disorders
- Unexplained episodes of metabolic crisis or neurological decline
Significant Benefits of Early Genetic Diagnosis
Undergoing the PDHA1 Gene Leigh Syndrome test provides numerous advantages for patients and families:
- Accurate diagnosis enabling targeted treatment approaches
- Early intervention to manage symptoms and slow disease progression
- Genetic counseling for family planning decisions
- Improved understanding of disease prognosis and management
- Potential eligibility for clinical trials and specialized care
- Peace of mind through definitive genetic confirmation
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your PDHA1 gene analysis results:
- Positive Result: Indicates the presence of a pathogenic mutation in the PDHA1 gene, confirming X-linked Leigh syndrome diagnosis
- Negative Result: No disease-causing mutations detected in the PDHA1 gene, though other genetic causes may need investigation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- All results include detailed genetic counseling to explain implications and next steps
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We proudly offer the PDHA1 Gene Leigh Syndrome X-Linked NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories serve patients in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Each location maintains the highest standards of genetic testing excellence and patient care.
Take Action for Better Neurological Health
Don’t wait to get the answers you need for proper diagnosis and management of neurological symptoms. Our team of genetic counselors and neurological specialists are ready to guide you through the testing process and provide comprehensive support. Early genetic diagnosis can make a significant difference in treatment outcomes and quality of life.
Call us today at +1(267) 388-9828 to schedule your PDHA1 Gene Leigh Syndrome X-Linked NGS Genetic DNA Test appointment or to speak with our genetic counseling team about your testing options.
