HSD3B7 Gene Bile Acid Synthesis Defect Type 1 Congenital NGS Genetic DNA Test
Comprehensive Introduction to Bile Acid Synthesis Disorders
The HSD3B7 Gene Bile Acid Synthesis Defect Type 1 represents a critical congenital metabolic disorder affecting the body’s ability to produce essential bile acids. These vital compounds play a fundamental role in digesting fats, absorbing fat-soluble vitamins, and eliminating cholesterol from the body. When the HSD3B7 gene contains mutations, it disrupts the normal bile acid synthesis pathway, leading to potentially severe health complications that can manifest shortly after birth.
This genetic condition falls under the broader category of inborn errors of metabolism and requires specialized diagnostic approaches for accurate identification. The importance of early detection cannot be overstated, as untreated bile acid synthesis defects can progress to irreversible liver damage, growth failure, and developmental delays. Our advanced NGS Genetic DNA Test provides the most comprehensive analysis available for identifying these critical genetic variations.
What the Test Measures and Detects
Our sophisticated NGS-based genetic screening targets specific mutations within the HSD3B7 gene that are responsible for bile acid synthesis defect type 1. The test provides comprehensive analysis of:
- Complete sequencing of the HSD3B7 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of splice site variants affecting gene function
- Assessment of compound heterozygous mutations
- Comprehensive variant analysis with clinical correlation
The test utilizes state-of-the-art Next-Generation Sequencing technology, which offers superior sensitivity and accuracy compared to traditional genetic testing methods. This advanced approach ensures that even rare or novel mutations are detected, providing families and healthcare providers with the most complete genetic picture available.
Who Should Consider This Genetic Screening
Clinical Indications and Symptoms
This specialized genetic test is recommended for individuals presenting with specific clinical symptoms or family history patterns:
- Infants with persistent neonatal jaundice beyond two weeks
- Children showing signs of progressive cholestatic liver disease
- Patients with unexplained hepatomegaly or liver dysfunction
- Individuals with family history of bile acid synthesis disorders
- Newborns with failure to thrive and poor weight gain
- Patients with elevated liver enzymes without clear etiology
- Children experiencing fat-soluble vitamin deficiencies
- Individuals with suspected metabolic liver diseases
High-Risk Populations
Certain populations may benefit from proactive genetic screening, including families with known metabolic disorders, consanguineous relationships, or previous children affected by unexplained liver conditions.
Significant Benefits of Genetic Testing
Undergoing the HSD3B7 Gene Bile Acid Synthesis Defect Type 1 NGS Genetic DNA Test offers numerous critical advantages for patients and families:
- Early Intervention Opportunities: Timely diagnosis enables immediate implementation of targeted therapies and dietary modifications
- Prevention of Disease Progression: Early detection helps prevent irreversible liver damage and associated complications
- Personalized Treatment Planning: Genetic results guide the development of individualized medical management strategies
- Family Planning Guidance: Provides essential information for genetic counseling and reproductive decision-making
- Accurate Prognostic Information: Helps healthcare providers understand disease severity and expected progression
- Reduced Diagnostic Uncertainty: Eliminates prolonged diagnostic odysseys and unnecessary medical procedures
Understanding Your Genetic Test Results
Interpretation Guidelines
Our comprehensive genetic report provides detailed analysis of your HSD3B7 gene sequencing results with clear clinical interpretations:
- Positive Result: Identification of pathogenic mutations confirms the diagnosis of bile acid synthesis defect type 1, requiring immediate medical management and genetic counseling
- Negative Result: No detected mutations in the HSD3B7 gene significantly reduces the likelihood of this specific disorder, though other metabolic conditions may require consideration
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or functional analysis for complete interpretation
- Carrier Status: Identification of single mutation carriers provides important information for family planning purposes
Post-Test Recommendations
All positive results include detailed recommendations for medical follow-up, including consultation with metabolic specialists, implementation of specific dietary therapies, and ongoing monitoring protocols. Our genetic counseling team provides comprehensive support for understanding your results and their implications for family health.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | HSD3B7 Gene Bile Acid Synthesis Defect Type 1 Congenital 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | General Physician, Genetics |
| Disease Category | Metabolic Disorders |
Nationwide Accessibility and Convenience
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas. Our network includes fully-equipped facilities in New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and numerous other cities. Each location maintains the same high standards of genetic testing excellence and patient care.
Take Action for Better Health Outcomes
Don’t let uncertainty about metabolic disorders compromise your health or your family’s wellbeing. Early genetic testing provides the clarity needed for effective medical management and improved quality of life. Our experienced genetic counselors and metabolic specialists are ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your HSD3B7 Gene Bile Acid Synthesis Defect Type 1 Congenital NGS Genetic DNA Test. Our team is available to answer your questions, discuss insurance coverage options, and help you take the first step toward definitive diagnosis and personalized care.
Remember, timely genetic testing can make a significant difference in managing metabolic disorders and preventing serious complications. Take control of your genetic health with our comprehensive, affordable, and accurate DNA testing services.
