NFU1 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 1 NGS Genetic DNA Test
Understanding NFU1 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 1
Multiple mitochondrial dysfunctions syndrome type 1 (MMDS1) is a rare, severe autosomal recessive disorder caused by mutations in the NFU1 gene. This gene plays a critical role in mitochondrial iron-sulfur cluster biogenesis, which is essential for proper mitochondrial function and cellular energy production. When NFU1 gene mutations occur, they disrupt multiple mitochondrial enzyme systems, leading to profound neurological and metabolic consequences that typically manifest in early infancy.
What Does This Test Measure and Detect?
Our advanced NGS Genetic DNA Test specifically targets the NFU1 gene to identify pathogenic variants responsible for multiple mitochondrial dysfunctions syndrome type 1. The test analyzes:
- Complete NFU1 gene sequencing for point mutations and small insertions/deletions
- Detection of known pathogenic variants associated with MMDS1
- Assessment of novel variants and their potential clinical significance
- Comprehensive analysis of mitochondrial function-related genetic markers
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with the following symptoms or clinical indications:
- Infants with severe neurological deterioration in the first months of life
- Progressive encephalopathy with developmental regression
- Metabolic acidosis and lactic acidosis
- Hypotonia (reduced muscle tone) and weakness
- Failure to thrive and feeding difficulties
- Leigh syndrome-like presentation
- Family history of mitochondrial disorders or consanguinity
- Unexplained neonatal or infantile neurological decline
Benefits of Taking the NFU1 Gene Test
Early genetic testing for NFU1 mutations provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out MMDS1 with high precision
- Family Planning: Enables informed reproductive decisions for at-risk families
- Personalized Management: Guides targeted treatment and supportive care strategies
- Prognostic Information: Helps predict disease progression and outcomes
- Research Contribution: Advances understanding of mitochondrial disorders
- Early Intervention: Facilitates timely implementation of appropriate therapies
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your NFU1 gene test results:
- Positive Result: Indicates the presence of pathogenic NFU1 mutations confirming MMDS1 diagnosis
- Negative Result: Suggests that NFU1 mutations are not the cause of symptoms, though other mitochondrial disorders may need consideration
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| 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: Neurological Genetics
Pre-Test Requirements
Before scheduling your NFU1 gene test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to discuss testing implications
- Development of a detailed family pedigree chart
- Review of potential benefits and limitations of testing
Nationwide Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for patients nationwide.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and management of suspected mitochondrial disorders. Our expert genetic counselors and neurologists are ready to assist you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your NFU1 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 1 NGS Genetic DNA Test and take the first step toward accurate diagnosis and personalized care.
