ACADVL Gene Acyl-CoA Very Long-Chain Dehydrogenase Deficiency NGS Genetic DNA Test
Understanding VLCAD Deficiency and Genetic Testing
Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) deficiency is a rare inherited metabolic disorder that affects the body’s ability to break down specific long-chain fatty acids for energy production. This condition results from mutations in the ACADVL gene, which provides instructions for making an enzyme essential for mitochondrial fatty acid oxidation. When this enzyme is deficient or dysfunctional, the body cannot properly convert fats into energy, particularly during periods of fasting, illness, or increased physical activity.
What Does the ACADVL Gene Test Detect?
Our advanced NGS Genetic DNA Test specifically analyzes the ACADVL gene to identify pathogenic variants that cause VLCAD deficiency. The test examines:
- Point mutations and small insertions/deletions throughout the ACADVL gene
- Missense, nonsense, and splice site variants affecting enzyme function
- Genetic changes that disrupt fatty acid beta-oxidation pathways
- Inheritance patterns (autosomal recessive) for family planning
Clinical Significance of Test Results
Identifying ACADVL gene mutations provides critical information for diagnosing VLCAD deficiency, which can manifest in three distinct clinical forms: severe neonatal onset, childhood onset, and adult-onset forms. Each presentation carries different prognostic implications and requires tailored management approaches.
Who Should Consider ACADVL Genetic Testing?
This test is recommended for individuals presenting with symptoms suggestive of VLCAD deficiency or those with specific risk factors:
Symptoms and Clinical Indicators
- Unexplained hypoglycemia (low blood sugar) during fasting or illness
- Muscle weakness, pain, or rhabdomyolysis following exercise
- Cardiomyopathy or arrhythmias in infants and children
- Liver dysfunction with hepatomegaly (enlarged liver)
- Developmental delays or failure to thrive in infants
- Elevated creatine kinase levels without clear explanation
- Family history of sudden infant death syndrome (SIDS)
At-Risk Populations
- Newborns with abnormal newborn screening results for VLCAD deficiency
- Individuals with confirmed biochemical evidence of fatty acid oxidation disorders
- Family members of diagnosed VLCAD deficiency patients
- Couples with family history planning pregnancy
Benefits of ACADVL Genetic DNA Testing
Early and accurate diagnosis through genetic testing provides numerous advantages for patients and families:
Clinical Management Benefits
- Enables implementation of preventive dietary strategies
- Facilitates timely intervention during metabolic crises
- Guides appropriate exercise and fasting recommendations
- Supports cardiac monitoring and management when indicated
- Provides basis for emergency medical protocols
Family Planning and Genetic Counseling
- Determines recurrence risks for future pregnancies
- Enables informed reproductive decision-making
- Supports prenatal diagnosis options when desired
- Facilitates cascade testing of at-risk relatives
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your ACADVL gene test results:
Possible Result Interpretations
- Positive Result: Identifies pathogenic variants confirming VLCAD deficiency diagnosis, enabling immediate implementation of management strategies
- Negative Result: No disease-causing variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical impact, requiring ongoing monitoring and family studies
- Carrier Status: Identifies individuals with one mutated copy who are typically asymptomatic but can pass the condition to offspring
Post-Test Guidance
All positive results include detailed recommendations for:
- Dietary management with medium-chain triglyceride (MCT) oil supplementation
- Fasting avoidance and illness management protocols
- Cardiac evaluation and monitoring requirements
- Emergency letter preparation for healthcare providers
- Family testing coordination and genetic counseling
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood
- Testing Method: Next Generation Sequencing (NGS) Technology
- Pre-test Requirements: Clinical history documentation and genetic counseling session
Nationwide Testing Availability
We provide comprehensive ACADVL genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified genetic counselors and metabolic specialists ensures you receive expert care regardless of your location.
Take Action for Your Metabolic Health
Don’t let uncertainty about potential VLCAD deficiency affect your quality of life. Early diagnosis through genetic testing can prevent serious complications and provide a clear path forward for management. Our team of genetic specialists is ready to guide you through the testing process and help you understand your results.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your ACADVL Gene Test. Take the first step toward clarity and proactive health management.
