HADH Gene 3-Hydroxyacyl-CoA Dehydrogenase Deficiency NGS Genetic DNA Test
Comprehensive Introduction to HADH Gene Deficiency Testing
The HADH Gene 3-Hydroxyacyl-CoA Dehydrogenase Deficiency NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics, offering precise detection of genetic mutations associated with this rare but serious condition. This advanced screening utilizes Next-Generation Sequencing (NGS) technology to analyze the HADH gene, which encodes the enzyme 3-hydroxyacyl-CoA dehydrogenase—a critical component in mitochondrial fatty acid beta-oxidation. Understanding your genetic predisposition to this metabolic disorder is essential for proactive health management and preventing potentially life-threatening metabolic crises.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based test specifically targets and sequences the entire HADH gene to identify pathogenic variants that disrupt normal enzyme function. The test detects:
- Point mutations, deletions, and insertions in the HADH gene
- Variants affecting the L-3-hydroxyacyl-CoA dehydrogenase enzyme
- Genetic changes that impair mitochondrial fatty acid oxidation
- Inheritance patterns (autosomal recessive) for family planning
- Specific mutations linked to clinical severity and symptom presentation
Who Should Consider HADH Gene Deficiency Testing
This genetic screening is particularly recommended for individuals displaying symptoms or with family history indicators including:
- Unexplained hypoglycemia, especially during fasting or illness
- Recurrent episodes of lethargy, vomiting, or metabolic acidosis
- Developmental delays or failure to thrive in infants and children
- Family history of sudden infant death syndrome (SIDS)
- Unexplained liver dysfunction or hepatomegaly
- Muscle weakness, hypotonia, or cardiomyopathy
- Previous abnormal newborn screening results for fatty acid oxidation disorders
Significant Benefits of Early Detection
Undergoing HADH gene testing provides numerous advantages for health management:
- Early Intervention: Enables proactive dietary management before metabolic crises occur
- Preventive Care: Helps avoid life-threatening hypoglycemic episodes
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides development of individualized management strategies
- Peace of Mind: Reduces uncertainty and anxiety about unexplained symptoms
- Comprehensive Health Planning: Facilitates coordinated care with metabolic specialists
Understanding Your Test Results
Our genetic counselors provide comprehensive interpretation of your results with clear guidance:
- Positive Result: Indicates presence of pathogenic HADH gene mutations requiring immediate consultation with a metabolic specialist for management planning
- Negative Result: Suggests absence of tested mutations, though continued monitoring may be recommended based on clinical presentation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation for proper interpretation
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but typically don’t show symptoms
Test Pricing and Availability
| Test Description | Price (USD) |
|---|---|
| HADH Gene 3-Hydroxyacyl-CoA Dehydrogenase Deficiency NGS Genetic DNA Test – Discount Price | $500 |
| HADH Gene 3-Hydroxyacyl-CoA Dehydrogenase Deficiency NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient 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. Our network of certified collection centers ensures accessible testing regardless of your location.
Take Control of Your Metabolic Health Today
Don’t wait for symptoms to escalate—proactive genetic testing can provide the answers you need for optimal health management. Our experienced genetic counselors are available to discuss your testing options and provide personalized guidance. Schedule your HADH Gene Deficiency Test today and take the first step toward comprehensive metabolic health understanding.
Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or speak with our genetic specialists. Early detection saves lives—make informed decisions about your metabolic health with confidence.
