ACADM Gene Acyl-CoA Medium-Chain Dehydrogenase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Health
The ACADM Gene Acyl-CoA Medium-Chain Dehydrogenase Deficiency NGS Genetic DNA Test represents a cutting-edge approach to identifying inherited metabolic disorders. This specialized genetic analysis focuses on detecting mutations in the ACADM gene, which plays a critical role in fatty acid metabolism. Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder that can lead to severe metabolic crises if left undiagnosed, making early detection through genetic testing essential for preventive healthcare and proper management.
What This Advanced Genetic Test Detects
Our NGS-based genetic test specifically targets the ACADM gene located on chromosome 1p31.1, which encodes the medium-chain acyl-CoA dehydrogenase enzyme. This enzyme is vital for the beta-oxidation pathway that breaks down medium-chain fatty acids into energy. The test identifies:
- Point mutations and single nucleotide variants in the ACADM gene
- Insertions and deletions affecting enzyme function
- Known pathogenic variants associated with MCADD
- Novel genetic changes that may impact metabolic function
- Carrier status for autosomal recessive inheritance patterns
Who Should Consider This Genetic Screening?
This comprehensive genetic test is recommended for individuals experiencing specific symptoms or having particular risk factors:
Symptoms and Clinical Indicators
- Unexplained episodes of hypoglycemia (low blood sugar)
- Recurrent vomiting, especially during illness or fasting
- Lethargy and decreased energy levels
- Developmental delays in infants and children
- Seizures or neurological symptoms without clear cause
- Liver dysfunction or hepatomegaly
- Metabolic acidosis episodes
- Family history of sudden infant death syndrome (SIDS)
High-Risk Populations
- Newborns with abnormal newborn screening results
- Individuals with family history of MCADD or metabolic disorders
- Parents planning pregnancy with known family risk factors
- Siblings of diagnosed MCADD patients
- Patients with unexplained metabolic crises
Significant Benefits of Early Detection
Undergoing the ACADM Gene NGS Test provides numerous advantages for health management and preventive care:
Proactive Health Management
- Enables early intervention before metabolic crises occur
- Facilitates personalized dietary planning and management
- Provides guidance for emergency care during illnesses
- Helps prevent long-term neurological complications
- Supports informed family planning decisions
Clinical Advantages
- Accurate diagnosis eliminates diagnostic uncertainty
- Comprehensive genetic information for treatment planning
- Carrier detection for genetic counseling purposes
- Prenatal testing options for at-risk families
- Monitoring of treatment effectiveness through genetic markers
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your ACADM gene analysis results:
Result Categories and Their Meanings
- Normal Result: No pathogenic variants detected in the ACADM gene, indicating low risk for MCADD
- Carrier Status: One copy of a pathogenic variant identified, indicating carrier status without disease manifestation
- Affected Status: Two pathogenic variants detected, confirming MCADD diagnosis
- Variant of Uncertain Significance: Genetic changes identified that require further clinical correlation
Next Steps After Testing
- Consult with our genetic counselors for detailed result interpretation
- Develop personalized management plans with your healthcare provider
- Implement preventive strategies based on genetic findings
- Consider family member testing when appropriate
- Establish regular follow-up care with metabolic specialists
Test Pricing and Details
| Test Component | Price (USD) | Details |
|---|---|---|
| Discount Price | $500 | Limited time offer – comprehensive NGS analysis |
| Regular Price | $700 | Standard pricing for advanced genetic screening |
| Turnaround Time | 3 to 4 Weeks | |
| Sample Type | Blood | |
| Testing Method | Next-Generation Sequencing (NGS) Technology | |
Nationwide Accessibility and Convenience
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas. Our state-of-the-art facilities in New York, Los Angeles, Chicago, Houston, Phoenix, and other key cities ensure accessible genetic testing services for everyone. Each location maintains the same high standards of quality, accuracy, and patient care that define our commitment to excellence in genetic diagnostics.
Take Control of Your Metabolic Health Today
Don’t wait for symptoms to manifest – proactive genetic testing can provide life-changing insights into your metabolic health. Our ACADM Gene NGS Test offers comprehensive analysis with rapid turnaround times and expert genetic counseling support. Early detection of medium-chain acyl-CoA dehydrogenase deficiency can prevent serious health complications and guide effective management strategies.
Ready to schedule your genetic screening? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions, discuss testing options, and help you take the first step toward understanding your genetic health profile.
Take advantage of our current promotional pricing at only $500 USD and invest in your long-term health and wellbeing. With convenient locations nationwide and expert genetic counseling services, we make advanced genetic testing accessible and understandable for every patient.
