CYP7B1 Gene Bile Acid Synthesis Defect Type 3 Congenital NGS Genetic DNA Test
Comprehensive Genetic Testing for Bile Acid Metabolism Disorders
The CYP7B1 Gene Bile Acid Synthesis Defect Type 3 Congenital NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying rare metabolic disorders affecting bile acid synthesis. This specialized genetic analysis provides crucial insights into congenital conditions that can significantly impact liver function and overall health from infancy.
What This Advanced Genetic Test Detects
This comprehensive NGS-based test specifically targets mutations in the CYP7B1 gene, which plays a critical role in the alternative pathway of bile acid synthesis. The test identifies:
- Pathogenic variants in the CYP7B1 gene associated with bile acid synthesis defects
- Specific mutations causing congenital type 3 bile acid synthesis disorder
- Genetic abnormalities affecting 7-alpha-hydroxylation of oxysterols
- Variants that disrupt normal bile acid metabolism and liver function
Who Should Consider This Genetic Test
This specialized genetic testing is particularly recommended for individuals presenting with:
- Infants and children with unexplained cholestatic liver disease
- Patients with progressive neurological deterioration of unknown origin
- Individuals with family history of bile acid synthesis disorders
- Cases of neonatal hepatitis with unclear etiology
- Patients showing signs of fat-soluble vitamin deficiencies
- Children with developmental delays and liver dysfunction
Clinical Benefits of Early Detection
Undergoing the CYP7B1 genetic test provides numerous clinical advantages:
- Enables precise diagnosis of congenital bile acid synthesis defects
- Facilitates early intervention and targeted treatment strategies
- Helps prevent progressive liver damage and neurological complications
- Provides valuable information for family planning and genetic counseling
- Guides appropriate dietary and therapeutic management
- Reduces unnecessary diagnostic procedures and medical costs
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results:
- Positive Result: Indicates the presence of pathogenic CYP7B1 gene mutations, confirming bile acid synthesis defect type 3. This enables immediate implementation of targeted treatment protocols.
- Negative Result: Suggests no detectable mutations in the CYP7B1 gene, though other genetic or metabolic conditions may require investigation.
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation and possibly additional family testing.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for patients throughout the country.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about bile acid metabolism disorders delay proper diagnosis and treatment. Our specialized genetic testing provides the answers you need for informed medical decisions. Contact our genetic counseling team today to schedule your test and begin your journey toward comprehensive health understanding.
Call or WhatsApp: +1(267) 388-9828 to book your CYP7B1 Gene Bile Acid Synthesis Defect Type 3 Congenital NGS Genetic DNA Test today.
