Skip to main content
DNA Labs India

EDN3 Gene Hirschsprung disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

EDN3 Gene Hirschsprung disease NGS Genetic Test

Short Name: EDN3 Hirschsprung NGS Test

Also known as: Congenital megacolon, Hirschsprung disease NGS genetic test

EDN3 Gene Hirschsprung disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of the EDN3 Gene Hirschsprung Disease NGS Genetic Test is to identify mutations in the EDN3 gene associated with Hirschsprung disease. This aids in confirming diagnosis, guiding treatment strategies such as surgical intervention, and providing valuable information for genetic counseling and family planning to assess recurrence risks.

Test Code
5769
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Hirschsprung disease are required before sample collection.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are recommended before the test.
2
During the Test:The test involves next-generation sequencing of the EDN3 gene from a blood or DNA sample.
3
After the Test:Results are reviewed by a geneticist, and follow-up counseling may be provided.

About This Test

Who Should Get This Test

The purpose of the EDN3 Gene Hirschsprung Disease NGS Genetic Test is to identify mutations in the EDN3 gene associated with Hirschsprung disease. This aids in confirming diagnosis, guiding treatment strategies such as surgical intervention, and providing valuable information for genetic counseling and family planning to assess recurrence risks.

How to Prepare

  • Blood sample collection in EDTA tube or use of FTA card for one drop blood.
  • Ensure proper labeling and handling of samples.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for EDN3 gene mutations is crucial for early diagnosis and management of Hirschsprung disease, aiding in treatment planning and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Understanding Your Results

Interpretation of the EDN3 Gene Hirschsprung Disease NGS Genetic Test results involves analyzing the presence of mutations in the EDN3 gene. Positive results indicate a genetic predisposition to Hirschsprung disease, while negative results suggest no detectable mutations in this gene.
📊

Positive for EDN3 pathogenic variant

Indicates a genetic cause for Hirschsprung disease, guiding treatment and genetic counseling.

📊

Negative for EDN3 mutations

No pathogenic variants detected in the EDN3 gene; clinical correlation is recommended.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as chronic constipation, abdominal distension, or failure to thrive are present, or if there is a family history of Hirschsprung disease. Genetic counseling is advised after test results.

Limitations

  • ⚠This test only detects mutations in the EDN3 gene; other genetic causes of Hirschsprung disease may require additional testing.
  • ⚠Results should be interpreted in conjunction with clinical findings and family history.

Risks & Considerations

  • ●Minimal risks associated with blood draw, such as bruising or infection.
  • ●Genetic testing may have psychological implications; counseling is recommended.

Frequently Asked Questions

What is Hirschsprung disease?
Hirschsprung disease is a congenital disorder where nerve cells are missing in parts of the intestine, causing bowel obstruction.
What is the EDN3 gene?
The EDN3 gene provides instructions for making endothelin 3, a protein involved in developing the enteric nervous system.
How is the NGS genetic test performed?
The test uses next-generation sequencing to analyze the EDN3 gene from a blood or DNA sample for mutations.
What are the symptoms of Hirschsprung disease?
Symptoms include constipation, abdominal distension, vomiting, diarrhea, and failure to thrive.
How is Hirschsprung disease diagnosed?
Diagnosis involves medical history, physical exam, and tests like barium enema, rectal biopsy, or genetic testing.
What is the cost of the EDN3 gene test in India?
The cost is INR 20000 at DNA Labs India, with free home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates a mutation in the EDN3 gene, suggesting a genetic cause for Hirschsprung disease.
Can this test be used for family planning?
Yes, the test provides information for genetic counseling to assess recurrence risks in families.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, such as bruising or infection.
How accurate is the NGS genetic test?
NGS is a highly accurate technology for detecting gene mutations, but results should be interpreted with clinical findings.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

Related Tests

NEUROG3 Gene Diarrhea type 4, malabsorptive, congenital NGS Genetic Test

₹20,000

GUCY2C Gene Meconium ileus NGS Genetic Test

₹20,000

SFTPA2 Gene Pulmonary fibrosis, idiopathic NGS Genetic Test

₹20,000

HLA - Celiac Disease (DR-DQB1-DQA1 Haplotype Association including DQ2DQ8) Test

₹8,000

SLC6A14 Gene Cystic fibrosis, SLC6A14 related NGS Genetic Test

₹20,000

GUCY2C Gene Diarrhea type 6 NGS Genetic Test

₹20,000
For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.