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EDNRB Gene Waardenburg syndrome/Hirschsprung disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

EDNRB Gene Waardenburg syndrome/Hirschsprung disease NGS Genetic Test

Short Name: EDNRB Gene Test

Also known as: EDNRB Gene Analysis, Waardenburg-Hirschsprung Genetic Test, EDNRB Mutation Screening

EDNRB Gene Waardenburg syndrome/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.

NGS Genetic Test🏠 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 diagnose Waardenburg syndrome and Hirschsprung disease by identifying mutations in the EDNRB gene, aiding in clinical management and genetic counseling.

Test Code
4605
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 affected family members are recommended.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

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

Step 3

Report Delivery

Sample is processed and analyzed in the lab; results are reviewed by geneticists.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are advised before testing.
2
During the Test:Blood sample collection is quick and minimally invasive.
3
After the Test:Results are delivered online; follow-up with a geneticist is recommended.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Waardenburg syndrome and Hirschsprung disease by identifying mutations in the EDNRB gene, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection tubes
  • Label samples accurately
  • Transport at ambient room temperature

Doctor's Notes

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

"This test is essential for early diagnosis of genetic disorders affecting pigmentation and bowel function, guiding family planning and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood in EDTA tube
FTA card
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the EDNRB gene. Positive results confirm genetic predisposition to Waardenburg syndrome or Hirschsprung disease.
📊

No pathogenic variants

Normal; low risk for EDNRB-related disorders

📊

Pathogenic variant detected

Confirms diagnosis; genetic counseling recommended for family planning

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms like pigmentation abnormalities, hearing loss, chronic constipation, or bowel issues in newborns, especially with a family history.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Results require clinical correlation and genetic counseling

Risks & Considerations

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

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality

Compare With Similar Tests

TestEDNRB Gene Waardenburg syndrome/Hirschsprung disease NGS Genetic TestEDN3 Gene TestSOX10 Gene Test
ComparisonEDNRB Gene Waardenburg syndrome/Hirschsprung disease NGS Genetic Test

Frequently Asked Questions

What is the EDNRB Gene NGS Genetic Test?
It is a Next-Generation Sequencing test to detect mutations in the EDNRB gene, associated with Waardenburg syndrome and Hirschsprung disease.
Who should consider this test?
Individuals with symptoms like pigmentation abnormalities, hearing loss, or bowel issues, or those with a family history of these disorders.
What are the symptoms of Waardenburg syndrome?
Symptoms include pale blue eyes, different colored eyes, white hair, pale skin, hearing loss, and facial abnormalities.
What are the symptoms of Hirschsprung disease?
Symptoms include constipation, abdominal distension, failure to pass meconium in newborns, and vomiting.
How is the test performed?
A blood sample or extracted DNA is analyzed using NGS technology to identify mutations in the EDNRB gene.
What is the cost of the test?
The test costs INR 20000 in India, with free home sample collection available.
Is home sample collection available?
Yes, free home collection is offered across many cities in India for online bookings.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. Government schemes like PMJAY may not cover it.
What are the risks of the test?
Risks are minimal, mainly related to blood draw, such as bruising. Genetic results may have psychological implications.
How should I prepare for the test?
No fasting is required. Provide clinical history and attend a genetic counseling session if possible.
What if the test result is positive?
A positive result confirms genetic predisposition; consult a geneticist for management and family planning advice.
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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