EDN3 Gene Hirschsprung Disease NGS Genetic DNA Test
Comprehensive Genetic Analysis for Hirschsprung Disease
The EDN3 Gene Hirschsprung Disease NGS Genetic DNA Test represents a significant advancement in pediatric genetic diagnostics, specifically designed to identify mutations in the Endothelin-3 (EDN3) gene that contribute to the development of Hirschsprung disease. This congenital disorder affects approximately 1 in 5,000 newborns and involves the absence of nerve cells in portions of the colon, leading to severe bowel obstruction and functional gastrointestinal issues.
What This Test Measures and Detects
Our advanced Next-Generation Sequencing (NGS) technology thoroughly analyzes the EDN3 gene to identify:
- Point mutations affecting gene function
- Small insertions and deletions disrupting protein production
- Regulatory variants impacting gene expression
- Pathogenic variants associated with enteric nervous system development
Who Should Consider This Test
This genetic test is particularly recommended for:
- Newborns and infants with delayed passage of meconium
- Children experiencing chronic constipation unresponsive to conventional treatments
- Patients with abdominal distension and vomiting
- Individuals with family history of Hirschsprung disease
- Cases of suspected intestinal obstruction in pediatric patients
- Children with feeding difficulties and failure to thrive
Key Benefits of EDN3 Genetic Testing
- Early Diagnosis: Enables prompt intervention and treatment planning
- Family Planning Guidance: Provides crucial information for genetic counseling
- Personalized Treatment: Helps tailor surgical and medical management approaches
- Risk Assessment: Identifies recurrence risks for future pregnancies
- Comprehensive Analysis: Utilizes cutting-edge NGS technology for accurate results
Understanding Your Test Results
Our comprehensive report provides clear interpretation of your genetic findings:
- Positive Result: Indicates the presence of a pathogenic EDN3 mutation, confirming genetic predisposition to Hirschsprung disease
- Negative Result: Suggests no detectable EDN3 mutations, though other genetic factors may still contribute to symptoms
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry mutations that could be passed to offspring
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| EDN3 Gene Hirschsprung Disease NGS Genetic DNA Test | $500 USD | $700 USD |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Specialty: Pediatrics
- Department: Genetics
- Method: NGS Technology
- Disease Type: Dysmorphology
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications and potential outcomes
- Informed consent process
Nationwide 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, San Jose, and many more. Our network of certified genetic counselors and healthcare professionals ensures accessible, high-quality care regardless of your location.
Take Action Today
Don’t wait to get the answers you need for your child’s health. Our EDN3 Gene Hirschsprung Disease NGS Genetic DNA Test provides critical information that can guide treatment decisions and improve long-term outcomes. With our discounted price of only $500 USD and comprehensive genetic analysis, you’re investing in your family’s health future.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the test. Our dedicated team is ready to assist you with compassionate, professional care and answer any questions you may have about the testing process.
