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EDNRB Gene Hirschsprung disease NGS Genetic Test

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EDNRB Gene Hirschsprung disease NGS Genetic Test

Short Name: EDNRB Gene Hirschsprung Disease Test

Also known as: Hirschsprung Disease Genetic Test, EDNRB Mutation Analysis, Hirschsprung Disease NGS Test

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

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect mutations in the EDNRB gene that cause Hirschsprung disease, enabling accurate diagnosis, risk assessment for family members, and personalized management plans.

Test Code
5770
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
Next-Generation Sequencing (NGS)
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.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card. Minimal discomfort expected.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are essential before testing.
2
During the Test:Sample collection is quick and minimally invasive.
3
After the Test:Results are available in 3-4 weeks; follow-up with a genetic counselor is advised.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the EDNRB gene that cause Hirschsprung disease, enabling accurate diagnosis, risk assessment for family members, and personalized management plans.

How to Prepare

  • Provide detailed clinical history
  • Attend genetic counseling session
  • Ensure sample is collected in a sterile environment
  • Label samples correctly with patient details

Doctor's Notes

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

"Early genetic testing for Hirschsprung disease can guide management and family counseling. Consult a specialist if symptoms are present."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood samples stable at room temperature for 24 hours
FTA cards stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling or missing documentation

Understanding Your Results

Results indicate the presence or absence of mutations in the EDNRB gene. Positive results confirm genetic predisposition to Hirschsprung disease, while negative results may require further testing.
📊

Pathogenic variant detected

Confirms genetic cause of Hirschsprung disease; genetic counseling recommended.

📊

No pathogenic variant detected

EDNRB mutations not found; consider other genetic or clinical evaluations.

📊

Variant of uncertain significance

Further research needed; consult genetic specialist for guidance.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms like constipation, abdominal distension, or failure to thrive are present, or if there is a family history of Hirschsprung disease.

Limitations

  • ⚠May not detect all genetic variants or non-EDNRB related causes
  • ⚠Results require interpretation by a genetic counselor
  • ⚠Not a standalone diagnostic tool; clinical correlation needed

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain or bruising
  • ●Emotional impact of genetic results; counseling provided

Interfering Factors

  • ●Contaminated or degraded DNA samples
  • ●Recent blood transfusions may affect results

Frequently Asked Questions

What is the EDNRB Gene Hirschsprung Disease NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to identify mutations in the EDNRB gene associated with Hirschsprung disease.
Who should consider this test?
Individuals with symptoms of Hirschsprung disease, such as constipation or abdominal distension, or those with a family history of the condition.
What is the cost of the test in India?
The test costs INR 20,000, with free home sample collection available across India.
How is the sample collected?
A blood sample is collected via venipuncture or one drop on an FTA card, with home collection options.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the results indicate?
Results show if mutations in the EDNRB gene are present, which can confirm Hirschsprung disease diagnosis.
Is genetic counseling included?
Yes, a genetic counseling session is recommended before and after testing to interpret results.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as slight pain or bruising.
Can this test be used for prenatal diagnosis?
Consult a genetic specialist; prenatal testing may be possible in some cases.
What if the test results are negative?
Negative results may require further clinical evaluation or testing for other genetic causes.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting known mutations, but interpretation should be done by a professional.
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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