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ECE1 Gene Hirschsprung disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ECE1 Gene Hirschsprung disease NGS Genetic Test

Short Name: ECE1 Hirschsprung NGS Test

Also known as: Hirschsprung disease genetic test, ECE1 mutation analysis, Congenital aganglionic megacolon genetic test

ECE1 Gene Hirschsprung disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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.

Genetic TestPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the ECE1 Gene Hirschsprung Disease NGS Genetic Test is to diagnose Hirschsprung disease by detecting pathogenic mutations in the ECE1 gene, aiding in clinical decision-making, family planning, and personalized treatment approaches.

Test Code
5766
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 (Next-Generation Sequencing)
Step 1

Sample Collection

Genetic counseling session is recommended. Provide clinical history and family pedigree chart.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card by trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site. Store sample as per instructions for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review. No fasting required.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Monitor puncture site. Await results in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of the ECE1 Gene Hirschsprung Disease NGS Genetic Test is to diagnose Hirschsprung disease by detecting pathogenic mutations in the ECE1 gene, aiding in clinical decision-making, family planning, and personalized treatment approaches.

How to Prepare

  • Ensure patient identification is correct.
  • Use sterile equipment for blood collection.
  • Label samples accurately with patient details.
  • Transport samples at ambient room temperature.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for Hirschsprung disease can guide treatment decisions and inform family planning for at-risk individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable for 48 hours at room temperature.
Extracted DNA stable for longer periods if stored properly.
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient sample volume
  • Incorrect labeling or missing patient information

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ECE1 gene. A positive result confirms a genetic basis for Hirschsprung disease, while a negative result may require further genetic testing.
📊

Positive for pathogenic variant

Confirms diagnosis of Hirschsprung disease due to ECE1 mutation. Genetic counseling and clinical management recommended.

📊

Negative for pathogenic variant

No ECE1 mutation detected. Consider other genetic or non-genetic causes. Further evaluation may be needed.

📊

Variant of uncertain significance

Genetic variant identified but clinical significance unknown. Repeat testing or family studies may be advised.

⚠️ When to Consult a Doctor:

Consult a geneticist or pediatric gastroenterologist if symptoms persist, for result interpretation, or to discuss family planning implications.

Limitations

  • ⚠This test only analyzes the ECE1 gene; other genetic causes of Hirschsprung disease are not covered.
  • ⚠Results may require confirmation with additional clinical evaluation.
  • ⚠Does not detect all types of genetic variants, such as large deletions or duplications.

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection.
  • ●Psychological impact of genetic results.

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage or handling
  • ●Recent blood transfusion

Frequently Asked Questions

What is Hirschsprung disease?
Hirschsprung disease is a congenital condition where nerve cells are missing in parts of the intestine, causing severe constipation and abdominal distension.
What is the ECE1 gene?
The ECE1 gene encodes an enzyme involved in neural development; mutations in this gene are associated with Hirschsprung disease.
How is the ECE1 Gene Hirschsprung Disease NGS Genetic Test performed?
The test uses Next-Generation Sequencing (NGS) to analyze DNA from a blood sample for mutations in the ECE1 gene.
What is the cost of this test in India?
The test costs INR 20,000, with free home sample collection available across India.
Who should consider this test?
Children with symptoms like chronic constipation, abdominal distension, or failure to pass meconium, and families with a history of Hirschsprung disease.
Is fasting required for this test?
No, fasting is not required for the ECE1 Gene Hirschsprung Disease NGS Genetic Test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted samples.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across numerous cities in India.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the ECE1 gene, confirming a genetic basis for Hirschsprung disease.
Can this test detect all causes of Hirschsprung disease?
No, this test only analyzes the ECE1 gene; other genetic causes may require additional testing.
Is genetic counseling provided?
Yes, a genetic counseling session is included to draw a pedigree chart and discuss implications before and after testing.
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.

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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.

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