ETFA Gene Acyl-CoA Multiple Dehydrogenase Deficiency NGS Genetic DNA Test
Comprehensive Introduction to ETFA Gene Testing
The ETFA Gene Acyl-CoA Multiple Dehydrogenase Deficiency NGS Genetic DNA Test represents a significant advancement in metabolic disorder diagnostics. This specialized genetic examination focuses on identifying mutations within the ETFA gene, which plays a critical role in mitochondrial fatty acid oxidation and amino acid metabolism. Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric acidemia type II, is a rare inherited metabolic disorder that can lead to severe health complications if left undiagnosed. Our state-of-the-art testing methodology provides accurate, reliable results essential for proper clinical management and treatment planning.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the ETFA gene using next-generation sequencing (NGS) technology to identify:
- Pathogenic variants and mutations in the ETFA gene
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Insertions, deletions, and copy number variations
- Genetic markers associated with impaired electron transfer flavoprotein function
- Variants that disrupt mitochondrial energy production pathways
The test provides complete gene sequencing with high coverage and accuracy, ensuring comprehensive detection of genetic abnormalities responsible for metabolic dysfunction.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is particularly recommended for individuals presenting with:
- Unexplained metabolic acidosis or hypoglycemia
- Recurrent episodes of vomiting, lethargy, or coma
- Muscle weakness, hypotonia, or developmental delays
- Organic aciduria detected through urine analysis
- Family history of metabolic disorders or sudden infant death
- Characteristic odor resembling sweaty feet or rancid butter
- Hepatomegaly or cardiomyopathy of unknown origin
- Failure to thrive in infants and children
Significant Benefits of ETFA Gene Testing
Undergoing this genetic screening provides numerous advantages for patients and healthcare providers:
- Early Diagnosis: Enables prompt intervention before severe metabolic crises occur
- Personalized Treatment: Guides dietary modifications and medication management
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Proactive Management: Helps prevent life-threatening metabolic decompensation
- Comprehensive Analysis: Utilizes advanced NGS technology for maximum detection accuracy
- Clinical Confidence: Delivers definitive genetic confirmation for uncertain clinical presentations
Understanding Your Test Results
Interpretation Guidance
Your genetic test results will be carefully analyzed and presented with comprehensive clinical context:
- Positive Result: Indicates the presence of pathogenic variants in the ETFA gene, confirming multiple acyl-CoA dehydrogenase deficiency diagnosis
- Negative Result: Suggests no detectable mutations in the ETFA gene, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation for proper interpretation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results include detailed explanations and recommendations for follow-up care with metabolic specialists and genetic counselors.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | ETFA 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 Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Preparation Requirements
To ensure optimal testing conditions and accurate results, please prepare the following:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Information about affected family members with metabolic symptoms
- Previous metabolic testing results and clinical evaluations
Nationwide Accessibility Across the United States
We proudly serve patients throughout 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 collection centers ensures accessible genetic testing services for patients nationwide.
Take Action for Your Metabolic Health
Don’t wait for symptoms to escalate. Early genetic testing can provide life-changing insights and enable proactive management of metabolic conditions. Our experienced genetic counselors and metabolic specialists are ready to guide you through the testing process and help interpret your results within the context of your overall health.
Ready to schedule your ETFA Gene Acyl-CoA Multiple Dehydrogenase Deficiency NGS Genetic DNA Test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward comprehensive metabolic health assessment and personalized care planning.
