ABCB11 Gene Cholestasis Benign Recurrent Intrahepatic Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Cholestatic Liver Disorders
The ABCB11 Gene Cholestasis Benign Recurrent Intrahepatic Type 2 NGS Genetic DNA Test represents a significant advancement in the diagnosis and management of hereditary cholestatic conditions. This specialized genetic analysis focuses on identifying mutations in the ABCB11 gene, which encodes the bile salt export pump (BSEP) protein essential for proper bile flow from liver cells into bile ducts. When this critical transport mechanism fails, patients experience recurrent episodes of cholestasis characterized by impaired bile secretion and accumulation of toxic substances in the liver.
What This Test Measures and Detects
Our advanced NGS genetic testing platform specifically targets the ABCB11 gene to identify pathogenic variants associated with benign recurrent intrahepatic cholestasis type 2 (BRIC2). The test comprehensively analyzes:
- Point mutations, insertions, and deletions in the ABCB11 gene
- Missense, nonsense, and frameshift mutations affecting BSEP function
- Genetic variations that impair bile salt transport mechanisms
- Hereditary patterns of cholestasis inheritance
- Specific mutations linked to recurrent cholestatic episodes
Who Should Consider This Genetic Test
This specialized genetic analysis is particularly recommended for individuals experiencing:
- Recurrent episodes of jaundice without apparent cause
- Persistent pruritus (itching) during cholestatic episodes
- Unexplained elevated liver enzymes and bilirubin levels
- Family history of recurrent cholestasis or liver disorders
- Intermittent symptoms of fatigue, nausea, and abdominal discomfort
- Previous episodes of cholestasis resolving spontaneously
- Suspected hereditary forms of liver dysfunction
Clinical Benefits of ABCB11 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out BRIC2 with precision
- Personalized Treatment: Enables targeted therapeutic approaches
- Family Planning: Provides crucial information for genetic counseling
- Prognostic Insights: Helps predict disease course and recurrence patterns
- Preventive Management: Allows for proactive symptom management strategies
- Reduced Diagnostic Uncertainty: Eliminates unnecessary invasive procedures
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your ABCB11 gene analysis:
- Positive Result: Indicates presence of pathogenic ABCB11 mutations confirming BRIC2 diagnosis
- Negative Result: Suggests absence of detectable ABCB11 mutations, though other genetic causes may be considered
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if you carry one copy of a mutated gene
All results include detailed clinical implications and recommendations for follow-up care with your healthcare provider.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Pre-Test Requirements and Preparation
To ensure optimal testing accuracy, we recommend:
- Complete clinical history documentation
- Genetic counseling session to establish family pedigree
- Blood sample collection by trained phlebotomists
- Discussion of testing implications with healthcare provider
Take Control of Your Liver Health Today
Don’t let recurrent cholestatic symptoms remain unexplained. Our ABCB11 Gene Cholestasis Benign Recurrent Intrahepatic Type 2 NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With results available in 3-4 weeks and our comprehensive genetic counseling support, you can make informed decisions about your health journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your cholestatic condition.
