NDUFAF1 Gene Leigh Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The NDUFAF1 Gene Leigh Syndrome NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations associated with Leigh syndrome. This sophisticated testing methodology utilizes next-generation sequencing technology to provide comprehensive analysis of the NDUFAF1 gene, which plays a critical role in mitochondrial complex I assembly and function.
What This Test Measures and Detects
This advanced genetic test specifically targets and analyzes the NDUFAF1 gene for pathogenic variants that cause Leigh syndrome, a progressive neurological disorder characterized by developmental regression, movement disorders, and respiratory problems. The test identifies:
- Point mutations in the NDUFAF1 gene coding regions
- Small insertions and deletions affecting gene function
- Pathogenic variants disrupting mitochondrial complex I assembly
- Inheritance patterns for genetic counseling purposes
- Specific mutation types that may influence disease progression
Who Should Consider This Test
This specialized genetic testing is recommended for individuals presenting with symptoms suggestive of Leigh syndrome or mitochondrial disorders, including:
- Infants and children experiencing developmental regression
- Patients with unexplained neurological symptoms including seizures
- Individuals with movement disorders or muscle weakness
- Those with family history of mitochondrial diseases
- Patients with abnormal brain MRI findings characteristic of Leigh syndrome
- Individuals with progressive neurological deterioration
- Patients with respiratory chain complex I deficiency
Clinical Benefits of NDUFAF1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out NDUFAF1-related Leigh syndrome
- Treatment Guidance: Informs targeted therapeutic approaches
- Prognostic Information: Helps predict disease progression and outcomes
- Family Planning: Provides crucial data for genetic counseling and reproductive decisions
- Early Intervention: Enables prompt management of symptoms
- Research Contribution: Advances understanding of mitochondrial disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your NDUFAF1 test results:
- Positive Result: Indicates presence of pathogenic NDUFAF1 mutation; confirms Leigh syndrome diagnosis and guides treatment planning
- Negative Result: Suggests NDUFAF1 mutations are not the cause of symptoms; may indicate need for additional mitochondrial gene testing
- Variant of Uncertain Significance: Requires further clinical correlation and family studies
- Carrier Status: Important information for family members and future reproductive planning
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | NDUFAF1 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 |
| Specialty | Neurologist |
| Department | Genetics |
| Method | NGS Technology |
| Disease Type | Neurological Disorders |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of affected family members with similar symptoms
- Relevant neurological and metabolic test results
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and neurologists ensures you receive comprehensive care regardless of your location.
Take the Next Step Toward Diagnosis
Don’t let uncertainty about neurological symptoms delay proper diagnosis and treatment. Our NDUFAF1 Gene Leigh Syndrome NGS Genetic DNA Test provides the clarity needed for effective management of mitochondrial disorders. With our discounted price of $500 USD and comprehensive genetic counseling support, you can make informed decisions about your health or your child’s health.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our experienced genetic specialists are ready to guide you through the testing process and help you understand your results.
Early genetic testing can make a significant difference in managing Leigh syndrome and related mitochondrial disorders. Contact us now to begin your journey toward accurate diagnosis and personalized treatment planning.
