NDUFAF2 Gene Leigh Syndrome NGS Genetic DNA Test
Comprehensive Mitochondrial Disorder Genetic Testing
The NDUFAF2 Gene Leigh Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for mitochondrial disorders. This specialized genetic test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the NDUFAF2 gene, which plays a critical role in mitochondrial complex I assembly. 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 regression and neurological deterioration.
What This Test Detects
This comprehensive genetic analysis specifically targets:
- Pathogenic variants in the NDUFAF2 gene located on chromosome 5
- Mutations affecting mitochondrial complex I assembly factor 2
- Genetic alterations responsible for mitochondrial respiratory chain deficiencies
- Inheritance patterns including autosomal recessive transmission
- Both known and novel variants through comprehensive sequencing
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Progressive neurological deterioration in infancy or childhood
- Developmental regression following periods of normal development
- Episodes of lactic acidosis and respiratory abnormalities
- Brain imaging showing characteristic bilateral lesions in basal ganglia
- Family history of mitochondrial disorders or unexplained infant deaths
- Unexplained neurological symptoms with suspected metabolic etiology
- Parents planning pregnancy with known family history of Leigh syndrome
Clinical Symptoms Indicating Testing
Patients may exhibit various neurological manifestations including:
- Loss of previously acquired motor skills and developmental milestones
- Poor sucking ability and feeding difficulties in infants
- Seizures, dystonia, and involuntary muscle contractions
- Vision problems and nystagmus due to optic nerve involvement
- Breathing irregularities and respiratory chain dysfunction
- Generalized weakness and failure to thrive
Benefits of NDUFAF2 Genetic Testing
Undergoing this specialized genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out NDUFAF2-related Leigh syndrome with high precision
- Family Planning Guidance: Enables informed reproductive decisions and prenatal testing options
- Treatment Direction: Guides appropriate management strategies and therapeutic interventions
- Prognostic Information: Provides insight into disease progression and expected clinical course
- Genetic Counseling: Supports comprehensive family risk assessment and education
- Research Contribution: Advances understanding of mitochondrial disorders and potential treatments
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and neurologists:
- Positive Result: Indicates the presence of pathogenic NDUFAF2 mutations confirming Leigh syndrome diagnosis
- Negative Result: Suggests absence of detectable NDUFAF2 mutations, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation and family studies
- Carrier Status: Determines if individuals carry one copy of mutated gene without disease manifestation
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| NDUFAF2 Gene Leigh Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| NDUFAF2 Gene Leigh Syndrome NGS Genetic DNA Test – 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
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create detailed family pedigree chart
- Documentation of affected family members with similar symptoms
- Relevant medical records and previous test results
- Informed consent for genetic testing and result disclosure
Nationwide Testing Availability
General Genetics Corporation provides comprehensive genetic testing services across the United States. We have established branches in all major metropolitan areas 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 consistent, high-quality care regardless of location.
Take Action for Better Health Outcomes
Early genetic diagnosis of NDUFAF2-related Leigh syndrome can significantly impact treatment approaches and family planning decisions. Don’t wait for symptoms to progress – proactive genetic testing provides the clarity needed for informed medical management.
Book your NDUFAF2 Gene Leigh Syndrome NGS Genetic DNA Test today by calling our dedicated genetic counseling team at +1(267) 388-9828 or schedule your appointment through our online booking system. Take the first step toward understanding your genetic health and securing better neurological outcomes for your family.
