HADHB Gene Trifunctional Protein Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The HADHB Gene Trifunctional Protein Deficiency NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the HADHB gene that cause trifunctional protein deficiency. This rare autosomal recessive metabolic disorder disrupts the body’s ability to properly metabolize long-chain fatty acids, leading to potentially life-threatening complications affecting multiple organ systems including the liver, kidneys, and endocrine glands.
What This Advanced Genetic Test Detects
This comprehensive Next Generation Sequencing (NGS) test specifically analyzes the HADHB gene located on chromosome 2p23. The test identifies:
- Point mutations, deletions, and insertions in the HADHB gene
- Genetic variants affecting mitochondrial trifunctional protein function
- Mutations that impair long-chain 3-hydroxyacyl-CoA dehydrogenase activity
- Genetic abnormalities disrupting enoyl-CoA hydratase function
- Variants affecting 3-ketoacyl-CoA thiolase activity
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Unexplained hypoglycemia episodes, especially during fasting or illness
- Recurrent episodes of metabolic acidosis and lethargy
- Progressive muscle weakness and cardiomyopathy symptoms
- Liver dysfunction with elevated liver enzymes
- Peripheral neuropathy and developmental delays
- Family history of sudden infant death syndrome (SIDS)
- Known family history of trifunctional protein deficiency
- Suspected metabolic disorders with multi-organ involvement
Significant Benefits of Early Genetic Diagnosis
Undergoing the HADHB Gene Trifunctional Protein Deficiency NGS Genetic DNA Test provides numerous advantages:
- Early Intervention: Enables proactive management before severe complications develop
- Personalized Treatment: Guides specific dietary modifications and medical therapies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Preventive Care: Helps prevent metabolic crises through appropriate monitoring
- Accurate Diagnosis: Eliminates diagnostic uncertainty and enables targeted care
- Comprehensive Analysis: NGS technology ensures thorough examination of the entire HADHB gene
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and medical geneticists:
- Positive Result: Indicates the presence of pathogenic mutations in the HADHB gene, confirming trifunctional protein deficiency diagnosis
- Negative Result: Suggests no disease-causing mutations were detected, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning
All positive results include detailed guidance on management strategies, dietary recommendations, and follow-up care protocols.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| HADHB Gene Trifunctional Protein Deficiency NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
We have conveniently located testing centers across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our state-of-the-art facilities ensure accurate sample collection and processing with results typically available within 3 to 4 weeks.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need about potential metabolic disorders. Early detection of HADHB gene mutations can significantly improve health outcomes and quality of life. Our experienced genetic counselors are available to discuss your concerns and guide you through the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward comprehensive genetic health assessment.
Our team of genetic specialists, including general physicians and metabolic geneticists, is committed to providing you with accurate, reliable genetic testing services backed by the latest NGS technology and comprehensive clinical support.
