HADHA Gene Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency NGS Genetic DNA Test
Understanding HADHA Gene LCHAD Deficiency
The HADHA Gene Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics. This comprehensive genetic analysis targets the HADHA gene, which encodes the alpha subunit of the mitochondrial trifunctional protein complex. When mutations occur in this critical gene, they disrupt the body’s ability to properly metabolize long-chain fatty acids, leading to potentially life-threatening metabolic crises.
LCHAD deficiency is an autosomal recessive disorder that affects approximately 1 in 100,000 newborns worldwide. The condition manifests when both copies of the HADHA gene contain pathogenic variants, resulting in impaired energy production during periods of fasting or increased energy demands. This sophisticated NGS-based test provides clinicians and families with definitive genetic information essential for accurate diagnosis and personalized treatment planning.
What This Advanced Genetic Test Detects
Our NGS Genetic DNA Test specifically identifies pathogenic variants in the HADHA gene that cause Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase deficiency. The test examines:
- Complete coding regions of the HADHA gene
- Exon-intron boundaries for splice site mutations
- Known pathogenic variants associated with LCHAD deficiency
- Novel genetic variations with potential clinical significance
- Copy number variations affecting gene function
The test utilizes next-generation sequencing technology to provide comprehensive coverage of the HADHA gene with exceptional accuracy and sensitivity. This advanced methodology enables detection of both common and rare mutations that conventional testing might miss, ensuring comprehensive genetic assessment for affected individuals and at-risk family members.
Who Should Consider HADHA Gene Testing?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with symptoms suggestive of LCHAD deficiency or those with specific risk factors:
- Infants and Children: Unexplained hypoglycemia, lethargy, feeding difficulties, or failure to thrive
- Muscle Symptoms: Muscle weakness, pain, or rhabdomyolysis following illness or fasting
- Neurological Manifestations: Developmental delay, seizures, or peripheral neuropathy
- Hepatic Involvement: Liver dysfunction, hepatomegaly, or elevated liver enzymes
- Cardiac Symptoms: Cardiomyopathy or arrhythmias of unknown origin
- Family History: Known LCHAD deficiency in relatives or unexplained infant deaths
- Newborn Screening: Abnormal newborn screening results indicating possible fatty acid oxidation disorder
Comprehensive Benefits of Early Detection
Early diagnosis through HADHA gene testing provides numerous critical advantages for patients and families:
- Prevent Metabolic Crises: Enables implementation of preventive measures to avoid life-threatening metabolic decompensation
- Personalized Treatment: Facilitates development of individualized dietary management plans including medium-chain triglyceride supplementation
- Family Planning: Provides essential information for genetic counseling and reproductive decision-making
- Improved Outcomes: Early intervention significantly reduces morbidity and mortality associated with LCHAD deficiency
- Comprehensive Care: Allows coordination with multidisciplinary specialists including metabolic geneticists, nutritionists, and neurologists
- Carrier Testing: Enables identification of asymptomatic carriers within families for informed family planning
Understanding Your Test Results
Interpretation and Clinical Implications
Our comprehensive genetic report provides clear, actionable information to guide clinical management:
- Positive Result: Identification of two pathogenic variants confirms LCHAD deficiency diagnosis, requiring immediate implementation of metabolic management protocols
- Carrier Status: Detection of one pathogenic variant indicates carrier status with important implications for family planning
- Negative Result: No pathogenic variants detected significantly reduces likelihood of HADHA-related LCHAD deficiency
- Variant of Uncertain Significance: Identification of genetic changes requiring further clinical correlation and possible family studies
All positive results include detailed interpretation by our board-certified genetic counselors, who provide personalized recommendations for management, surveillance, and family testing. Negative results are accompanied by appropriate clinical context and consideration of alternative diagnoses when indicated by clinical presentation.
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | HADHA Gene Long-Chain 3-Hydroxyacyl-CoA 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 |
| Methodology | Next-Generation Sequencing (NGS) Technology |
| Specialty | Metabolic Genetics |
Nationwide Accessibility and Convenience
General Genetics Corporation maintains comprehensive testing facilities across the United States, ensuring convenient access to advanced genetic diagnostics. Our network includes specialized collection centers in major metropolitan areas including:
- New York City and surrounding tri-state area
- Los Angeles and Southern California region
- Chicago and Midwest locations
- Houston, Dallas, and Texas facilities
- Miami, Orlando, and Florida centers
- Seattle, Portland, and Pacific Northwest sites
- Boston, Philadelphia, and Northeast locations
Each facility adheres to the highest standards of clinical excellence and patient care, with trained phlebotomists and genetic counselors available to assist with sample collection and pre-test counseling.
Take Action for Better Health Outcomes
Early genetic testing for HADHA gene mutations can be life-saving for individuals at risk of LCHAD deficiency. Our comprehensive NGS-based approach provides the most accurate genetic information available, enabling proactive management of this serious metabolic condition.
Schedule your HADHA Gene LCHAD Deficiency NGS Genetic DNA Test today by calling our dedicated genetic counseling team at +1(267) 388-9828 or book your appointment online through our secure patient portal.
Don’t wait for symptoms to escalate – take control of your genetic health with definitive testing from General Genetics Corporation, your trusted partner in advanced metabolic genetics diagnostics.
