HADHA Gene Trifunctional Protein Deficiency NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Health
The HADHA Gene Trifunctional Protein Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic disorders. This advanced screening utilizes cutting-edge Next-Generation Sequencing technology to analyze the HADHA gene, which encodes the alpha subunit of the mitochondrial trifunctional protein complex. This complex plays a critical role in fatty acid oxidation, an essential metabolic process that converts fats into energy. When mutations occur in the HADHA gene, it can lead to trifunctional protein deficiency, a serious condition that disrupts the body’s ability to metabolize certain fats properly.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the HADHA gene to identify pathogenic variants that cause trifunctional protein deficiency. The test examines:
- Complete HADHA gene sequencing for all coding regions
- Detection of point mutations, insertions, and deletions
- Identification of known pathogenic variants associated with metabolic disorders
- Analysis of splice site mutations that affect protein function
- Comprehensive variant interpretation by certified genetic specialists
Who Should Consider This Genetic Test
This specialized genetic screening is recommended for individuals experiencing:
- Unexplained hypoglycemia episodes, especially during fasting or illness
- Muscle weakness, hypotonia, or recurrent rhabdomyolysis
- Developmental delays or neurological symptoms in infancy or childhood
- Family history of sudden infant death syndrome (SIDS)
- Previous siblings with metabolic disorders or unexplained infant mortality
- Pregnant women with family history of metabolic conditions
- Individuals planning pregnancy with known family genetic risks
Significant Benefits of Early Detection
Undergoing the HADHA Gene Trifunctional Protein Deficiency test provides numerous advantages:
- Early Intervention: Enables proactive management before symptoms become severe
- Personalized Treatment: Guides dietary modifications and medical interventions
- Reproductive Planning: Informs family planning decisions and prenatal testing options
- Preventive Care: Helps avoid metabolic crises through careful monitoring
- Family Screening: Identifies at-risk relatives who may benefit from testing
- Definitive Diagnosis: Provides clarity for unexplained medical symptoms
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and metabolic specialists. Results typically fall into three categories:
- Positive Result: Indicates the presence of pathogenic HADHA gene mutations. Our genetic counseling team will provide comprehensive guidance on management strategies, dietary recommendations, and family screening options.
- Negative Result: No disease-causing mutations detected in the HADHA gene. This significantly reduces the likelihood of trifunctional protein deficiency, though other metabolic conditions may still need consideration.
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or research to determine their clinical significance. Our specialists will guide you through next steps.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| HADHA Gene Trifunctional Protein Deficiency NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Accessibility
We proudly serve patients across 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. Our network of certified collection centers ensures easy access to this vital genetic testing service.
Take Control of Your Metabolic Health Today
Don’t wait to get the answers you need about your genetic health. Early detection of HADHA gene mutations can be life-changing for individuals and families affected by metabolic disorders. Our team of genetic specialists is ready to guide you through the testing process and provide comprehensive support for your health journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your HADHA Gene Trifunctional Protein Deficiency NGS Genetic DNA Test and take the first step toward proactive metabolic health management.
