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DNA Labs India

RET Gene Hirschsprung disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

RET Gene Hirschsprung disease NGS Genetic Test

Short Name: RET Gene Hirschsprung Disease NGS Test

Also known as: HSCR, Congenital Aganglionic Megacolon

RET 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.

Genetic TestPediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the RET gene associated with Hirschsprung disease for accurate diagnosis, risk assessment, and personalized treatment planning.

Test Code
5771
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.

Step 2

Laboratory Analysis

Your sample is analyzed using Next-Generation Sequencing (NGS) 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 review are recommended before testing.
2
During the Test:The test involves analyzing DNA from a blood sample using NGS technology.
3
After the Test:Results are available in 3-4 weeks; follow-up with a healthcare provider for interpretation and management.

About This Test

Who Should Get This Test

To identify mutations in the RET gene associated with Hirschsprung disease for accurate diagnosis, risk assessment, and personalized treatment planning.

How to Prepare

  • Collect blood sample using standard venipuncture techniques.
  • Alternatively, use extracted DNA or one drop of blood on an FTA card.
  • Ensure proper labeling and handling of samples.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the RET gene. A positive result confirms genetic predisposition to Hirschsprung disease, while a negative result suggests no detected mutations, though clinical correlation is advised.
📊

Positive for pathogenic RET mutation

Confirms genetic basis for Hirschsprung disease; recommend clinical evaluation and family screening.

📊

Negative for pathogenic RET mutation

No mutations detected; consider other diagnostic tests if symptoms persist.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms like chronic constipation, abdominal distension, or failure to thrive are present, especially in infants or with a family history of Hirschsprung disease.

Risks & Considerations

  • Minimal physical risk from blood draw.
  • Potential psychological impact from genetic results.
  • Risk of false positives or negatives, though rare with NGS.

Frequently Asked Questions

What is Hirschsprung disease?
Hirschsprung disease is a congenital condition where ganglion cells are missing in parts of the intestine, leading to bowel obstruction and symptoms like chronic constipation.
What causes Hirschsprung disease?
It is primarily caused by mutations in the RET gene, which affects the development of the enteric nervous system.
What is the RET gene?
The RET gene provides instructions for making a protein involved in cell signaling and is crucial for the development of the nervous system and other tissues.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze DNA from a blood sample or extracted DNA to detect mutations in the RET gene.
What is the cost of the RET Gene Hirschsprung Disease NGS Test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What are the risks of the test?
Risks are minimal, including slight discomfort from blood draw and potential psychological impact from genetic results.
Who should get tested for Hirschsprung disease?
Infants or children with symptoms like chronic constipation, abdominal distension, or a family history of the disease should consider testing.
How should I prepare for the test?
No fasting is required. Provide clinical history and undergo genetic counseling before testing.
What if the test results are positive?
A positive result confirms a genetic mutation; consult a healthcare provider for further evaluation, treatment planning, and family screening.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. Government schemes like PMJAY may not cover it, but private insurance might.
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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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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