ATP8B1 Gene Cholestasis Progressive Intrahepatic Type 1 NGS Genetic DNA Test
Understanding Progressive Familial Intrahepatic Cholestasis Type 1
Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1) represents a rare inherited liver disorder characterized by impaired bile flow from liver cells, leading to progressive liver damage and potential liver failure. This condition stems from mutations in the ATP8B1 gene, which plays a critical role in maintaining the structural integrity of liver cell membranes and proper bile acid transport. The ATP8B1 Gene Cholestasis Progressive Intrahepatic Type 1 NGS Genetic DNA Test provides definitive diagnosis through advanced genetic analysis, enabling early intervention and personalized treatment strategies.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based genetic test specifically targets mutations in the ATP8B1 gene, which encodes a protein essential for maintaining bile flow and preventing bile acid toxicity. The test identifies:
- Point mutations, insertions, and deletions in the ATP8B1 gene
- Compound heterozygous and homozygous mutations
- Novel genetic variants affecting protein function
- Inheritance patterns for family counseling
Using cutting-edge Next-Generation Sequencing technology, we achieve exceptional accuracy in detecting even rare genetic variations that conventional testing might miss.
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with:
- Persistent jaundice and itching (pruritus) beginning in infancy or childhood
- Unexplained elevated liver enzymes and bile acid levels
- Growth failure and malnutrition despite adequate nutrition
- Family history of progressive liver disease or cholestasis
- Diagnostic uncertainty in liver dysfunction cases
- Planning for liver transplantation evaluation
- Family planning considerations with known PFIC1 history
Significant Benefits of Early Genetic Diagnosis
Early detection through genetic testing offers multiple advantages:
- Accurate Diagnosis: Confirms PFIC1 and differentiates from other liver disorders
- Personalized Treatment: Guides medication choices and dietary interventions
- Family Planning: Provides crucial information for genetic counseling
- Prognostic Insight: Helps predict disease progression and complications
- Preventive Care: Enables monitoring for associated conditions like hearing loss
- Transplant Planning: Informs timing and preparation for potential liver transplantation
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Identifies pathogenic mutations confirming PFIC1 diagnosis
- Negative Result: No disease-causing mutations detected in ATP8B1 gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further evaluation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results include detailed explanations and recommendations for follow-up care with your healthcare provider and genetic counselor.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | ATP8B1 Gene Cholestasis Progressive Intrahepatic Type 1 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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) |
Nationwide Testing Availability
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 accessible genetic testing services nationwide.
Take Control of Your Health Today
Don’t let uncertainty about liver health concerns affect your quality of life. Early genetic diagnosis can provide clarity and direction for managing Progressive Familial Intrahepatic Cholestasis Type 1. Our experienced genetic counselors and medical professionals 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 ATP8B1 genetic test and take the first step toward definitive diagnosis and personalized care.
