ETFB Gene Acyl-CoA Multiple Dehydrogenase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Disorders
The ETFB Gene Acyl-CoA Multiple Dehydrogenase Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic conditions. This advanced test specifically targets the ETFB gene, which plays a critical role in the electron transfer flavoprotein complex essential for fatty acid oxidation and energy metabolism. By utilizing next-generation sequencing technology, we provide unparalleled accuracy in detecting genetic mutations associated with multiple acyl-CoA dehydrogenase deficiency (MADD), a rare but serious metabolic disorder affecting energy production from fats.
What This Test Measures and Detects
Our comprehensive genetic analysis examines the complete coding region of the ETFB gene to identify:
- Pathogenic variants and mutations in the ETFB gene
- Single nucleotide polymorphisms affecting enzyme function
- Insertions, deletions, and copy number variations
- Genetic markers associated with MADD severity
- Inheritance patterns for family risk assessment
Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with:
- Unexplained metabolic crises or acidotic episodes
- Recurrent hypoglycemia without apparent cause
- Muscle weakness, fatigue, or exercise intolerance
- Developmental delays in infants and children
- Family history of metabolic disorders
- Unexplained liver dysfunction or hepatomegaly
- Cardiomyopathy or cardiac abnormalities
- Feeding difficulties in newborns
Key Benefits of Genetic Testing
Undergoing the ETFB Gene Acyl-CoA Multiple Dehydrogenase Deficiency test provides numerous advantages:
- Early Diagnosis: Enables prompt intervention before severe symptoms develop
- Personalized Treatment: Guides targeted therapeutic approaches
- Family Planning: Provides crucial information for genetic counseling
- Proactive Management: Helps prevent metabolic crises through dietary modifications
- Peace of Mind: Reduces uncertainty about unexplained symptoms
- Comprehensive Care: Facilitates multidisciplinary treatment planning
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Indicates the presence of pathogenic ETFB gene mutations. Our genetic counselors will explain the implications and recommend appropriate management strategies.
- Negative Result: Suggests no detectable mutations in the ETFB gene, though other genetic factors may still be considered.
- Variant of Uncertain Significance: Some genetic changes may require additional family studies for complete interpretation.
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but typically don’t show symptoms.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | ETFB Gene Acyl-CoA Multiple Dehydrogenase 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to discuss implications
- Family pedigree chart creation for affected relatives
- Understanding of test limitations and benefits
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, and many more. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take Control of Your Health Today
Don’t let uncertainty about metabolic symptoms affect your quality of life. Our ETFB Gene Acyl-CoA Multiple Dehydrogenase Deficiency NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With our discounted price of only $500 USD, comprehensive genetic analysis is more accessible than ever.
Ready to schedule your test? Call or WhatsApp us today at +1(267) 388-9828 to book your appointment and take the first step toward understanding your genetic health.
