SURF1 Gene Leigh Syndrome Due to COX Deficiency NGS Genetic DNA Test
Comprehensive Introduction to SURF1 Gene Testing
The SURF1 Gene Leigh Syndrome Due to COX Deficiency NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the SURF1 gene that cause Leigh syndrome. This autosomal recessive disorder primarily affects the central nervous system and results from impaired mitochondrial energy production due to cytochrome c oxidase (COX) deficiency. Our advanced testing methodology provides crucial insights for families affected by this devastating condition, enabling early intervention and informed medical decisions.
What This Advanced Genetic Test Detects
This sophisticated diagnostic examination specifically targets mutations within the SURF1 (Surfeit locus protein 1) gene located on chromosome 9q34. The test employs Next-Generation Sequencing technology to comprehensively analyze:
- Point mutations, deletions, and insertions in the SURF1 gene
- Genetic variations affecting COX assembly and function
- Pathogenic variants responsible for mitochondrial complex IV deficiency
- Inheritance patterns for accurate genetic counseling
Clinical Significance of SURF1 Mutations
SURF1 gene mutations disrupt the assembly of cytochrome c oxidase, the terminal enzyme in the mitochondrial respiratory chain. This impairment leads to severe energy deficiency in high-demand tissues like the brain, resulting in the characteristic neurological symptoms of Leigh syndrome. Early detection through our NGS testing allows for timely intervention and management strategies.
Who Should Consider SURF1 Genetic Testing?
This comprehensive genetic evaluation is recommended for individuals presenting with:
- Progressive neurological deterioration in infancy or early childhood
- Developmental regression following periods of normal development
- Characteristic brain imaging findings showing bilateral basal ganglia lesions
- Elevated lactate levels in blood or cerebrospinal fluid
- Family history of Leigh syndrome or unexplained infant mortality
- Siblings of affected individuals for carrier screening
- Unexplained neurological symptoms with suspected mitochondrial origin
Symptom Presentation Indicators
Patients typically exhibit symptoms including psychomotor regression, seizures, dystonia, ataxia, ophthalmoplegia, and respiratory abnormalities. The progressive nature of this condition underscores the importance of early genetic diagnosis for optimal management.
Significant Benefits of Early Genetic Diagnosis
Undergoing SURF1 genetic testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out SURF1-related Leigh syndrome with high precision
- Proactive Management: Enables early intervention and symptom-specific treatments
- Genetic Counseling: Provides essential information for family planning decisions
- Personalized Care: Facilitates tailored therapeutic approaches based on genetic findings
- Research Contribution: Advances understanding of mitochondrial disorders
- Emotional Closure: Offers clarity and reduces diagnostic uncertainty for families
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of findings:
- Positive Result: Identifies pathogenic SURF1 mutations confirming diagnosis, enabling targeted management and family screening
- Negative Result: Rules out SURF1-related Leigh syndrome, guiding investigation toward other mitochondrial disorders
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies asymptomatic individuals who may pass the condition to offspring
Post-Test Guidance
All positive results include detailed genetic counseling sessions to discuss implications, inheritance patterns, and management strategies. Our team provides ongoing support for result interpretation and next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | SURF1 Gene Leigh Syndrome Due to COX Deficiency NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
Pre-Test Requirements
Before testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of affected family members with similar symptoms
Nationwide Accessibility and Booking
We maintain diagnostic centers across major metropolitan areas throughout the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our experienced genetic counselors and neurologists provide comprehensive support throughout the testing process.
Take Action Today
Don’t let diagnostic uncertainty delay proper care. Our specialized team is ready to assist you with scheduling, sample collection, and result interpretation. Early genetic diagnosis can significantly impact treatment outcomes and quality of life for individuals with suspected mitochondrial disorders.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your SURF1 genetic testing appointment. Our genetic specialists are available to answer your questions and guide you through the testing process with compassion and expertise.
