NDUFS4 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The NDUFS4 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for mitochondrial disorders. This advanced test specifically targets the NDUFS4 gene, which plays a critical role in mitochondrial complex I function—the largest enzyme complex in the mitochondrial respiratory chain. Mitochondrial complex I deficiency is a severe metabolic disorder that affects energy production at the cellular level, leading to progressive neurological deterioration and multi-system involvement.
What This Test Measures and Detects
Our NGS-based genetic test provides comprehensive analysis of the NDUFS4 gene to identify:
- Pathogenic variants and mutations in the NDUFS4 gene
- Single nucleotide polymorphisms (SNPs) affecting mitochondrial function
- Deletions, insertions, and copy number variations
- Compound heterozygous and homozygous mutations
- Novel genetic variants with potential clinical significance
Who Should Consider This Test
This specialized genetic test is recommended for individuals presenting with:
- Unexplained neurological symptoms including seizures, ataxia, or developmental regression
- Progressive muscle weakness and exercise intolerance
- Metabolic acidosis and lactic acidosis episodes
- Developmental delays in infancy or childhood
- Family history of mitochondrial disorders or unexplained infant deaths
- Leigh syndrome or similar neurodegenerative conditions
- Cardiomyopathy or other organ system involvement without clear cause
Key Benefits of NDUFS4 Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of mitochondrial complex I deficiency
- Family Planning Guidance: Enables informed reproductive decisions and genetic counseling
- Personalized Treatment: Guides targeted therapeutic interventions and management strategies
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management to improve quality of life
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your NDUFS4 gene analysis:
- Positive Result: Indicates the presence of pathogenic mutations confirming mitochondrial complex I deficiency diagnosis
- Negative Result: Suggests no detectable mutations in the NDUFS4 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if you carry a single copy of a mutation that could be passed to offspring
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | NDUFS4 Gene Mitochondrial Complex I Deficiency 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 |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas 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 healthcare professionals ensures you receive expert care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about mitochondrial disorders impact your health decisions. Our NDUFS4 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic counseling support, you can make informed decisions about your neurological health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your genetic health journey.
