ACSF3 Gene Combined Malonic and Methylmalonic Aciduria NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The ACSF3 Gene Combined Malonic and Methylmalonic Aciduria NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the ACSF3 gene, which plays a crucial role in mitochondrial fatty acid synthesis and energy metabolism. Combined malonic and methylmalonic aciduria is a rare inherited metabolic disorder that affects the body’s ability to process certain proteins and fats properly, leading to the accumulation of toxic organic acids in the bloodstream.
What This Test Measures and Detects
This comprehensive genetic test specifically targets:
- Mutations in the ACSF3 gene responsible for combined malonic and methylmalonic aciduria
- Genetic variations affecting mitochondrial acyl-CoA synthetase function
- Inherited metabolic disorders impacting organic acid metabolism
- Genetic predisposition to metabolic acidosis and related complications
Who Should Consider This Test
This genetic screening is recommended for individuals experiencing:
- Unexplained metabolic acidosis or recurrent acidotic episodes
- Developmental delays or neurological symptoms in infancy or childhood
- Family history of metabolic disorders or unexplained infant deaths
- Elevated malonic and methylmalonic acid levels in urine organic acid analysis
- Failure to thrive, feeding difficulties, or recurrent vomiting
- Hypotonia (low muscle tone) or seizures of unknown origin
Benefits of Genetic Testing
Undergoing the ACSF3 Gene Combined Malonic and Methylmalonic Aciduria NGS Genetic DNA Test provides numerous advantages:
- Early and accurate diagnosis of metabolic disorders
- Personalized treatment and management strategies
- Improved understanding of disease progression and prognosis
- Valuable information for family planning and genetic counseling
- Potential prevention of metabolic crises through proactive management
- Comprehensive genetic insights for affected family members
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors:
- Positive Result: Indicates the presence of ACSF3 gene mutations associated with combined malonic and methylmalonic aciduria. Our genetic counseling team will provide comprehensive guidance on management strategies and treatment options.
- Negative Result: Suggests no detectable mutations in the ACSF3 gene, though other metabolic conditions may need consideration based on clinical presentation.
- Variant of Uncertain Significance: Some genetic variations may require additional family studies or clinical correlation for proper interpretation.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood |
Nationwide Accessibility
We have branches 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 comprehensive network ensures convenient access to advanced genetic testing services regardless of your location.
Take Control of Your Genetic Health
Don’t wait to get the answers you need about potential metabolic disorders. Our ACSF3 Gene Combined Malonic and Methylmalonic Aciduria NGS Genetic DNA Test provides the comprehensive genetic insights necessary for informed healthcare decisions. With our discounted price of $500 and expert genetic counseling services, you can take proactive steps toward better health management.
Book your test today by calling +1(267) 388-9828 or schedule your appointment online. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
