EDNRB Gene Hirschsprung Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Pediatric Bowel Disorders
The EDNRB Gene Hirschsprung Disease NGS Genetic DNA Test represents a breakthrough in pediatric genetic diagnostics, offering families and healthcare providers critical insights into congenital intestinal disorders. Hirschsprung disease is a serious condition affecting approximately 1 in 5,000 newborns, characterized by the absence of nerve cells in portions of the bowel, leading to severe constipation and bowel obstruction.
What This Advanced Genetic Test Measures
This sophisticated diagnostic examination utilizes next-generation sequencing (NGS) technology to analyze the EDNRB (Endothelin Receptor Type B) gene, which plays a crucial role in the development of the enteric nervous system. The test specifically detects:
- Point mutations and small insertions/deletions in the EDNRB gene
- Gene variants associated with Hirschsprung disease susceptibility
- Inheritance patterns for family genetic counseling
- Risk assessment for future pregnancies
Who Should Consider This Genetic Test
This comprehensive genetic analysis is particularly recommended for:
- Infants and children presenting with chronic constipation since birth
- Patients with confirmed or suspected Hirschsprung disease
- Individuals with family history of intestinal motility disorders
- Newborns experiencing delayed passage of meconium
- Children with abdominal distension and feeding difficulties
- Families planning future pregnancies with previous Hirschsprung disease cases
Key Benefits of EDNRB Genetic Testing
Choosing this advanced genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms genetic basis of symptoms for targeted treatment
- Early Intervention: Enables prompt surgical planning when necessary
- Family Planning Guidance: Provides recurrence risk information for future pregnancies
- Comprehensive Analysis: NGS technology ensures thorough gene examination
- Expert Interpretation: Results reviewed by board-certified genetic specialists
- Genetic Counseling Support: Professional guidance for understanding results
Understanding Your Test Results
Your EDNRB gene test results will be carefully interpreted by our genetic specialists and may indicate:
- Positive Result: Identifies pathogenic variants confirming genetic diagnosis
- Negative Result: No disease-causing variants detected in EDNRB gene
- Variant of Uncertain Significance: Requires additional family studies
- Carrier Status: Important for reproductive planning and genetic counseling
All results include detailed explanations and recommendations for next steps, with genetic counseling sessions available to discuss implications for your family.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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 other cities. Our network of certified genetic testing facilities ensures accessible, reliable service nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our EDNRB Gene Hirschsprung Disease NGS Genetic DNA Test provides the answers you need for informed medical decisions and family planning. With results available in 3-4 weeks and multiple sample options including blood, extracted DNA, or FTA card blood drops, getting tested has never been more convenient.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book this essential test. Our compassionate genetic specialists are ready to guide you through every step of the testing process.
