JAG1 Gene Alagille Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Alagille Syndrome Diagnosis
The JAG1 Gene Alagille Syndrome Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic tool that utilizes next-generation sequencing technology to identify mutations in the JAG1 gene, which are responsible for Alagille syndrome type 1. This multisystem genetic disorder affects approximately 1 in 30,000 to 1 in 70,000 individuals and can impact multiple organ systems, including the liver, heart, eyes, and skeletal structure.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based test specifically targets the JAG1 gene, which encodes a ligand in the Notch signaling pathway crucial for proper embryonic development. The test identifies:
- Point mutations in the JAG1 gene coding regions
- Small insertions and deletions affecting gene function
- Copy number variations and larger deletions
- Pathogenic variants affecting protein structure and function
Who Should Consider JAG1 Genetic Testing?
This test is particularly recommended for individuals presenting with:
- Liver abnormalities: Neonatal jaundice, cholestasis, or bile duct paucity
- Cardiac concerns: Peripheral pulmonary artery stenosis or other congenital heart defects
- Characteristic facial features: Broad forehead, deep-set eyes, and pointed chin
- Ocular findings: Posterior embryotoxon or other anterior segment abnormalities
- Skeletal manifestations: Butterfly vertebrae or other vertebral anomalies
- Family history: Known relatives with Alagille syndrome or similar symptoms
Significant Benefits of JAG1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Alagille syndrome with high precision
- Treatment Guidance: Informs appropriate medical management strategies
- Family Planning: Provides crucial information for reproductive decisions
- Early Intervention: Enables proactive management of potential complications
- Peace of Mind: Reduces diagnostic uncertainty for patients and families
Understanding Your Test Results
Our comprehensive report provides clear interpretation of your genetic findings:
- Positive Result: Indicates the presence of a pathogenic JAG1 mutation, confirming Alagille syndrome diagnosis
- Negative Result: Suggests Alagille syndrome is unlikely, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
All results include detailed explanations and recommendations for follow-up care with genetic counseling specialists.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | JAG1 Gene Alagille Syndrome Type 1 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 |
| Specialty | Pediatrics, Genetics |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session prior to testing
- Development of detailed family pedigree chart
- Discussion of testing implications and potential outcomes
Nationwide Accessibility
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 genetic counselors and healthcare professionals ensures you receive comprehensive support throughout the testing process.
Take the Next Step Toward Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our JAG1 Gene Alagille Syndrome Type 1 NGS Genetic DNA Test provides the definitive answers you need for informed healthcare decisions. With our special discounted price of $500 USD (regularly $700 USD), advanced genetic testing is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our knowledgeable genetic specialists are ready to guide you through every step of the process and answer all your questions about Alagille syndrome testing and management.
