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GDNF Gene Hirschsprung disease, type 3, susceptibility to NGS Genetic Test

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GDNF Gene Hirschsprung disease, type 3, susceptibility to NGS Genetic Test

Short Name: GDNF Hirschsprung NGS Test

Also known as: Congenital Megacolon, Hirschsprung Disease Type 3

GDNF Gene Hirschsprung disease, type 3, susceptibility to 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.

NGS Genetic TestPediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the GDNF gene associated with Hirschsprung disease type 3 for accurate diagnosis, prognosis, and treatment planning.

Test Code
5775
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

Provide clinical history and undergo genetic counselling session to draw a pedigree chart.

Method: Blood Draw or DNA Extraction

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counselling session to draw a pedigree chart.
2
During the Test:Blood sample will be collected via venipuncture.
3
After the Test:Apply pressure to the puncture site to stop bleeding.

About This Test

Who Should Get This Test

To identify mutations in the GDNF gene associated with Hirschsprung disease type 3 for accurate diagnosis, prognosis, and treatment planning.

How to Prepare

  • Blood sample: 5ml in EDTA tube
  • Or extracted DNA
  • Or one drop blood on FTA card

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
Collection MethodBlood Draw or DNA Extraction

Sample Stability

Blood: 2-8°C for 7 days
DNA: -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of mutations in the GDNF gene.
Positive: Pathogenic variant detected, indicating susceptibility to Hirschsprung disease type 3
Negative: No pathogenic variants detected
Variant of uncertain significance: Further testing may be needed
⚠️ When to Consult a Doctor:

If symptoms of Hirschsprung disease are present or for genetic counselling after test results.

Limitations

  • May not detect all mutations
  • Results require genetic counselling interpretation

Risks & Considerations

  • Minor bruising at blood draw site
  • Infection risk (minimal)

Interfering Factors

  • Sample contamination
  • Improper sample storage

Frequently Asked Questions

What is GDNF Gene Hirschsprung Disease?
GDNF Gene Hirschsprung Disease is a rare genetic condition where mutations in the GDNF gene lead to improper development of nerve cells in the colon, causing Hirschsprung disease type 3.
What are the symptoms of GDNF Gene Hirschsprung Disease?
Symptoms include constipation from birth, abdominal swelling, lack of bowel movements in infants, difficulty passing stools, diarrhea, malnutrition, and vomiting.
How is GDNF Gene Hirschsprung Disease diagnosed?
Diagnosis involves medical history, physical examination, and tests like anorectal manometry, barium enema, rectal biopsy, and colonoscopy, followed by genetic testing.
What is the NGS Genetic Test for GDNF Gene?
Next-generation sequencing (NGS) is a highly accurate genetic test that detects mutations in the GDNF gene associated with Hirschsprung disease.
What is the cost of the GDNF Gene NGS Test in India?
The cost is approximately INR 20,000 at DNA Labs India, with free home sample collection available.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
What sample types are accepted?
Blood, extracted DNA, or one drop blood on FTA card are accepted.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
What does a positive test result mean?
A positive result indicates a pathogenic variant in the GDNF gene, suggesting susceptibility to Hirschsprung disease type 3.
Can the test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; consult a genetic counsellor for prenatal options.
How accurate is the NGS Genetic Test?
NGS is highly accurate for detecting gene mutations, but results should be interpreted by a genetic specialist.
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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