NDUFAF3 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test
Understanding Mitochondrial Complex I Deficiency
Mitochondrial complex I deficiency represents a critical genetic disorder affecting the body’s primary energy production system. The NDUFAF3 gene plays an essential role in assembling complex I of the mitochondrial respiratory chain, which is responsible for generating adenosine triphosphate (ATP) – the fundamental energy currency of our cells. When mutations occur in the NDUFAF3 gene, this assembly process becomes disrupted, leading to severe energy deficits throughout the body, particularly affecting tissues with high energy demands like the brain, muscles, and nervous system.
What This Advanced Genetic Test Detects
Our comprehensive NGS genetic DNA test specifically targets the NDUFAF3 gene to identify pathogenic variants that cause mitochondrial complex I deficiency. The test examines:
- Point mutations and single nucleotide variants in the NDUFAF3 gene
- Small insertions and deletions affecting gene function
- Copy number variations that may disrupt normal gene expression
- Regulatory region mutations impacting gene regulation
Who Should Consider This Genetic Test?
This specialized genetic analysis is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Progressive muscle weakness and exercise intolerance
- Neurological symptoms including seizures or movement disorders
- Vision problems such as optic atrophy or retinal degeneration
- Metabolic abnormalities including lactic acidosis
- Family history of mitochondrial disorders or unexplained infant deaths
- Multiple organ system involvement suggesting energy deficiency
Significant Benefits of Early Genetic Testing
Undergoing the NDUFAF3 gene test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive identification of the genetic cause behind symptoms
- Personalized Treatment: Enables targeted therapeutic approaches based on specific genetic findings
- Family Planning Guidance: Offers crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to optimize outcomes
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results effectively:
- Positive Result: Indicates the presence of pathogenic NDUFAF3 gene mutations, confirming mitochondrial complex I deficiency diagnosis
- Negative Result: Suggests no detectable mutations in the NDUFAF3 gene, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes requiring further research and family studies
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | NDUFAF3 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 |
Nationwide Testing Availability
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 cities. Our network of certified genetic counselors and medical professionals ensures you receive comprehensive support throughout your testing journey.
Take Control of Your Genetic Health Today
Don’t let uncertainty about mitochondrial disorders affect your quality of life. Our advanced NDUFAF3 gene testing provides the clarity you need for informed medical decisions. With our discounted price of only $500 USD and comprehensive genetic counseling included, you can access world-class genetic testing without financial burden.
Ready to begin your genetic health journey? Call our dedicated genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing your family’s future.
