TJP2 Gene Hypercholanemia NGS Genetic DNA Test
Understanding TJP2 Gene Hypercholanemia
The TJP2 Gene Hypercholanemia NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic liver disorders. Hypercholanemia is a rare inherited condition characterized by elevated bile acid levels in the blood, which can lead to significant liver complications and systemic health issues. This advanced genetic test specifically targets mutations in the TJP2 (Tight Junction Protein 2) gene, which plays a crucial role in maintaining the integrity of liver cell barriers and regulating bile acid transport.
What Does This Test Measure?
Our comprehensive NGS Genetic DNA Test analyzes the complete coding region of the TJP2 gene to identify pathogenic variants, including:
- Point mutations and single nucleotide variants
- Insertions and deletions affecting gene function
- Copy number variations impacting gene dosage
- Splice site mutations altering protein production
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Unexplained persistent itching (pruritus) without skin rash
- Elevated liver enzymes or abnormal liver function tests
- Family history of liver disorders or metabolic conditions
- Diagnosed hypercholanemia requiring genetic confirmation
- Children with failure to thrive and liver involvement
- Patients with unexplained cholestasis or bile duct abnormalities
Clinical Indications and Symptoms
Patients experiencing symptoms such as chronic fatigue, digestive disturbances, jaundice, or abnormal bile acid profiles should consider this test. Early genetic diagnosis can prevent progressive liver damage and guide appropriate therapeutic interventions.
Benefits of TJP2 Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of hypercholanemia
- Personalized Treatment: Enables targeted therapy based on genetic findings
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management to prevent complications
- Comprehensive Analysis: Utilizes state-of-the-art NGS technology for thorough genetic assessment
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results, including:
- Positive Result: Indicates the presence of pathogenic TJP2 gene mutations, confirming hypercholanemia diagnosis
- Negative Result: Suggests no detected mutations in the TJP2 gene, though other genetic causes may need investigation
- Variant of Uncertain Significance: Requires additional family studies or functional analysis for clarification
All results are accompanied by comprehensive genetic counseling to help you understand the implications and next steps.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | TJP2 Gene Hypercholanemia 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
Before scheduling your test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
Nationwide 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 ensures accessible genetic testing services for patients throughout the country.
Book Your Test Today
Take the first step toward understanding your genetic health. Our experienced genetic counselors and medical professionals are ready to guide you through the testing process and provide comprehensive support.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your TJP2 Gene Hypercholanemia NGS Genetic DNA Test and receive professional genetic counseling.
Early genetic diagnosis can make a significant difference in managing metabolic liver disorders. Don’t wait – secure your appointment now and take control of your health journey with confidence and clarity.
