NR1H4 Gene Cholestasis Infantile NR1H4 Related NGS Genetic DNA Test
Understanding NR1H4 Gene Cholestasis and Its Clinical Significance
The NR1H4 Gene Cholestasis Infantile NR1H4 Related NGS Genetic DNA Test represents a breakthrough in pediatric hepatology diagnostics. This specialized genetic test focuses on identifying mutations in the NR1H4 gene, which encodes the farnesoid X receptor (FXR) – a critical regulator of bile acid metabolism. When this gene malfunctions, it leads to progressive familial intrahepatic cholestasis type 5 (PFIC5), a severe liver disorder that typically manifests in infancy.
Early diagnosis through this advanced genetic testing is paramount because untreated PFIC5 can progress to end-stage liver disease, requiring liver transplantation. The NR1H4 gene plays a vital role in maintaining bile acid homeostasis, and mutations disrupt this delicate balance, causing toxic bile accumulation that damages liver cells over time.
What the NR1H4 Genetic Test Detects
This comprehensive NGS-based genetic test specifically identifies:
- Pathogenic variants in the NR1H4 gene associated with PFIC5
- Single nucleotide polymorphisms (SNPs) affecting bile acid regulation
- Deletion/duplication mutations impacting FXR function
- Inheritance patterns (autosomal recessive) for genetic counseling
- Specific mutation types that may influence treatment response
The test utilizes next-generation sequencing technology to provide complete coverage of the NR1H4 gene, ensuring high sensitivity and accuracy in mutation detection. This advanced approach allows for simultaneous analysis of multiple genetic regions, providing a comprehensive assessment of potential disease-causing variants.
Who Should Consider NR1H4 Genetic Testing?
Clinical Indications and Symptoms
This test is recommended for infants and children presenting with:
- Persistent jaundice beyond the neonatal period
- Severe pruritus (itching) unresponsive to conventional treatments
- Failure to thrive and poor weight gain
- Hepatomegaly (enlarged liver) or splenomegaly
- Elevated serum bile acid levels
- Conjugated hyperbilirubinemia
- Family history of infantile liver disorders
- Suspected progressive familial intrahepatic cholestasis
Additionally, testing should be considered for siblings of affected individuals and for prenatal diagnosis in families with known NR1H4 mutations.
Benefits of NR1H4 Genetic DNA Testing
Undergoing NR1H4 genetic testing provides numerous clinical advantages:
- Early Intervention: Enables timely treatment before irreversible liver damage occurs
- Accurate Diagnosis: Provides definitive diagnosis, eliminating diagnostic uncertainty
- Personalized Treatment: Guides targeted therapeutic approaches based on specific mutation
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Prevention Strategies: Allows for monitoring and preventive care in at-risk family members
Understanding Your Test Results
Interpretation Guidelines
Your NR1H4 genetic test results will fall into one of several categories:
- Positive Result: Identification of known pathogenic variants confirms PFIC5 diagnosis and enables immediate intervention
- Negative Result: No detected mutations suggest alternative diagnoses should be explored
- Variant of Uncertain Significance (VUS): Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results are accompanied by comprehensive genetic counseling to ensure proper understanding and appropriate next steps. Our team of genetic specialists will guide you through result interpretation and develop a personalized management plan based on your specific findings.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | NR1H4 Gene Cholestasis Infantile NR1H4 Related 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 |
Pre-Test Requirements and Preparation
Before undergoing NR1H4 genetic testing, patients should provide:
- Complete clinical history detailing liver function and symptoms
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with similar conditions
- Recent liver function test results and imaging studies
Our genetic counseling team specializes in hepatology genetics and will ensure you receive comprehensive pre-test guidance and post-test support.
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic testing facilities ensures accessible, high-quality care regardless of your location.
Take Action for Your Child’s Health
Don’t wait to get answers about your child’s liver health. Early diagnosis of NR1H4-related cholestasis can significantly improve outcomes and quality of life. Our team of genetic specialists, hepatologists, and pediatric experts are ready to provide the comprehensive care your family needs.
Book your NR1H4 Genetic DNA Test today by calling +1(267) 388-9828 or scheduling your appointment online. Take the first step toward understanding your child’s genetic health and accessing targeted treatment options.
