ABCB11 Gene Cholestasis Progressive Intrahepatic Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Liver Health
The ABCB11 Gene Cholestasis Progressive Intrahepatic Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for liver disorders. This advanced testing methodology utilizes next-generation sequencing (NGS) technology to provide comprehensive analysis of the ABCB11 gene, which plays a critical role in bile formation and liver function. Early detection through this test can significantly impact treatment outcomes and quality of life for individuals affected by progressive familial intrahepatic cholestasis type 2.
What This Test Measures and Detects
This sophisticated genetic test specifically targets the ABCB11 gene, which encodes the bile salt export pump (BSEP) protein. The analysis identifies:
- Pathogenic mutations in the ABCB11 gene sequence
- Single nucleotide variants affecting bile salt transport
- Insertions and deletions that disrupt protein function
- Genetic variations associated with progressive liver damage
- Inheritance patterns for family risk assessment
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Persistent jaundice in infancy or childhood
- Unexplained pruritus (severe itching)
- Elevated serum bile acid levels
- Family history of liver disorders
- Progressive liver dysfunction without clear cause
- Growth failure in children with liver symptoms
- Suspected metabolic liver diseases
Clinical Benefits of Early Detection
Undergoing the ABCB11 genetic test provides numerous advantages:
- Early intervention and targeted treatment planning
- Accurate diagnosis to guide therapeutic decisions
- Family planning and genetic counseling opportunities
- Prevention of progressive liver damage
- Improved quality of life through symptom management
- Reduced need for invasive diagnostic procedures
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates presence of ABCB11 gene mutations associated with PFIC2, requiring specialized medical management
- Negative Result: Suggests absence of tested mutations, though clinical correlation with symptoms remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Important information for family planning decisions
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our comprehensive network ensures accessible genetic testing services for families nationwide.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need for better liver health management. Our expert genetic counselors and medical professionals are ready to guide you through the testing process and help you understand your results. Contact us now to schedule your ABCB11 genetic test and take the first step toward proactive health management.
Call or WhatsApp: +1(267) 388-9828 to book your test appointment today!
