BCS1L Gene Leigh Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The BCS1L Gene Leigh Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the BCS1L gene, which plays a critical role in mitochondrial function and energy production within cells. 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 and neurological complications.
What Does This Test Measure?
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the BCS1L gene for pathogenic variants that cause Leigh syndrome. The test specifically detects:
- Point mutations and small insertions/deletions in the BCS1L gene
- Variants affecting mitochondrial complex III assembly
- Genetic changes that impair oxidative phosphorylation
- Inherited and de novo mutations associated with neurological deterioration
Who Should Consider This Test?
This specialized genetic test is recommended 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 symptoms
- Individuals with unexplained lactic acidosis
- Those with family history of mitochondrial diseases
- Patients with characteristic brain imaging findings
- Children with feeding difficulties and failure to thrive
- Individuals with seizures or movement disorders
Key Benefits of BCS1L Genetic Testing
Undergoing the BCS1L Gene Leigh Syndrome NGS Genetic DNA Test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive genetic confirmation of Leigh syndrome
- Early Intervention: Enables timely medical management and treatment planning
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Care: Helps guide specialized neurological and metabolic treatments
- Prognostic Information: Assists in understanding disease progression and outcomes
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results with professional interpretation:
- Positive Result: Indicates the presence of pathogenic BCS1L gene mutations associated with Leigh syndrome, requiring immediate consultation with a neurologist and genetic counselor
- Negative Result: Suggests no detectable mutations in the BCS1L gene, though additional testing may be recommended for comprehensive evaluation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications, requiring ongoing monitoring and family studies
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | BCS1L 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 |
Nationwide Testing Availability
We have branches across the United States, making this essential genetic testing accessible in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and neurological specialists ensures comprehensive support throughout the testing process.
Pre-Test Requirements
Before scheduling your BCS1L Gene Leigh Syndrome NGS Genetic DNA Test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Discussion of testing implications with a qualified genetic counselor
- Understanding of potential outcomes and their medical significance
Take Control of Your Neurological Health
Don’t let uncertainty about mitochondrial disorders affect your quality of life. The BCS1L Gene Leigh Syndrome NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. Our team of neurological genetics specialists is ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward definitive answers about your neurological health.
