Skip to main content
DNA Labs India

ZEB2 Gene Hirschsprung disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ZEB2 Gene Hirschsprung disease NGS Genetic Test

Short Name: ZEB2 Hirschsprung NGS Test

Also known as: ZEB2 Gene Test for Hirschsprung Disease, Hirschsprung Disease Genetic Test, ZEB2 NGS Test

ZEB2 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

To detect pathogenic mutations in the ZEB2 gene for the diagnosis and management of Hirschsprung disease.

Test Code
5774
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

Avoid eating or drinking for 2 hours before blood draw. Inform the healthcare provider about any medications or medical conditions.

Method: Venipuncture or blood drop on FTA card

Step 2

Laboratory Analysis

A small blood sample will be collected via venipuncture or a blood drop on an FTA card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Keep the area clean and dry.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to draw a pedigree chart of family members affected with Hirschsprung disease.
2
During the Test:Sample collection via blood draw or FTA card. DNA extraction and NGS sequencing performed in the laboratory.
3
After the Test:Results reviewed by a geneticist. Report delivered with interpretation and recommendations.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the ZEB2 gene for the diagnosis and management of Hirschsprung disease.

How to Prepare

  • Use sterile equipment
  • Label samples correctly with patient details
  • Store samples at appropriate temperature

Doctor's Notes

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

"Genetic testing for ZEB2 gene mutations is essential for confirming Hirschsprung disease diagnosis and guiding treatment plans, especially in pediatric cases."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop on FTA card

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results from the ZEB2 Gene Hirschsprung Disease NGS Genetic Test indicate the presence or absence of mutations in the ZEB2 gene. Genetic counseling is essential to understand the implications.
📊

Normal

No pathogenic variant in ZEB2 gene detected. Hirschsprung disease less likely due to ZEB2 mutations. Clinical correlation recommended.

📊

Abnormal

Pathogenic variant detected in ZEB2 gene. Consistent with Hirschsprung disease. Genetic counseling and further clinical evaluation recommended.

⚠️ When to Consult a Doctor:

If you experience symptoms of Hirschsprung disease such as chronic constipation or abdominal distention, or if genetic testing indicates a mutation, consult a healthcare provider for management.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires interpretation by a geneticist
  • ⚠Not a standalone diagnostic tool

Risks & Considerations

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

Interfering Factors

  • ●Sample contamination
  • ●DNA degradation
  • ●Technical errors in sequencing

Frequently Asked Questions

What is the ZEB2 Gene Hirschsprung Disease NGS Genetic Test?
This test uses next-generation sequencing to detect mutations in the ZEB2 gene, which is associated with Hirschsprung disease, a congenital disorder affecting the large intestine.
Why is this test recommended?
It is recommended for individuals with symptoms of Hirschsprung disease or a family history of the condition to confirm diagnosis and guide treatment.
How is the test performed?
A small blood sample or DNA is collected and analyzed using NGS technology to sequence the ZEB2 gene for mutations.
What is the cost of the test?
The cost is INR 20000, which includes sample collection, sequencing, and report generation.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically delivered in 3 to 4 weeks via online portal, email, or WhatsApp.
What do the results mean?
Normal results indicate no pathogenic variant detected, while abnormal results suggest a mutation in the ZEB2 gene, consistent with Hirschsprung disease.
Is genetic counseling required?
Yes, genetic counseling is recommended before and after testing to understand the implications and family risks.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Psychological impact of results may occur, hence counseling is advised.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis. Consult a geneticist for prenatal testing options.
What other genes are associated with Hirschsprung disease?
Other genes include RET, EDNRB, SOX10, NTRK1, and PHOX2B, among others.
How accurate is the NGS technology?
NGS is highly accurate for detecting genetic mutations, but results should be interpreted by a qualified geneticist in clinical context.
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

Amino Acids Qualitative Two Dimensional Urine Test

₹1,439

Succinylacetone Urine Test

₹5,000

RXFP2 Gene Cryptorchidism NGS Genetic Test

₹20,000

EFNB1 Gene Craniofrontonasal syndrome NGS Genetic Test

₹20,000

MNX1 Gene Currarino syndrome NGS Genetic Test

₹20,000

FGFR1 Gene Craniosynostosis, FGFR1 related 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.