NRTN Gene Hirschsprung disease NGS Genetic Test
Short Name: NRTN Gene Hirschsprung Disease Test
Also known as: Hirschsprung Disease Genetic Test, NRTN Gene Mutation Analysis
NRTN Gene Hirschsprung disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify mutations in the NRTN gene that may cause Hirschsprung disease, enabling accurate diagnosis, genetic counseling, and informed management decisions for affected individuals and families.
- Test Code
- 5773
- 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 (Next-Generation Sequencing)
Sample Collection
Ensure genetic counseling session is completed and clinical history is provided. No specific preparation is required, but avoid eating or drinking for a short period before blood draw if advised.
Method: Venipuncture or FTA card collection
Laboratory Analysis
A blood sample will be drawn from a vein in the arm, or a drop of blood will be collected on an FTA card. The procedure is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities immediately. Store the sample as instructed for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the NRTN gene that may cause Hirschsprung disease, enabling accurate diagnosis, genetic counseling, and informed management decisions for affected individuals and families.
How to Prepare
- Use sterile equipment for blood collection
- Label the sample correctly with patient details
- Transport the sample at ambient room temperature
- For FTA card, ensure the blood drop is fully absorbed and dried
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early diagnosis and management of Hirschsprung disease in pediatric patients, especially when symptoms like constipation or abdominal swelling are present."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrect labeling or missing patient information
- Contaminated sample
Understanding Your Results
Positive for pathogenic NRTN mutation
Confirms genetic etiology for Hirschsprung disease; genetic counseling and family screening recommended.
Negative for pathogenic NRTN mutation
No mutation detected in the NRTN gene; consider other genetic or non-genetic causes and clinical correlation.
Variant of uncertain significance (VUS)
A genetic variant was found but its clinical significance is unclear; further testing or family studies may be needed.
Consult a doctor if the test results are positive, if symptoms persist or worsen, or for genetic counseling and family planning advice. Immediate consultation is needed for signs of enterocolitis such as fever, bloody stools, or severe abdominal pain.
Limitations
- ⚠May not detect all genetic variants or mutations outside the NRTN gene
- ⚠Results require interpretation by a genetic counselor or specialist
- ⚠Does not rule out other causes of Hirschsprung disease
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Genetic testing may have psychological implications; counseling is recommended
Interfering Factors
- ●Sample contamination during collection or transport
- ●Degraded DNA due to improper storage
- ●Hemolyzed blood sample
Compare With Similar Tests
| Test | NRTN Gene Hirschsprung disease NGS Genetic Test | Rectal Biopsy | Barium Enema | Anorectal Manometry |
|---|---|---|---|---|
| Comparison | NRTN Gene Hirschsprung disease NGS Genetic Test |
Frequently Asked Questions
What is Hirschsprung disease?
What is the NRTN gene?
How is the NGS Genetic Test performed?
What is the cost of this test?
Is home sample collection available?
How long does it take to get results?
What sample is required for the test?
Is fasting required before the test?
What do positive results mean?
Can this test diagnose all cases of Hirschsprung disease?
Is genetic counseling necessary?
What should I do if symptoms persist after a negative test?
Related Tests
Amino Acids Qualitative Two Dimensional Urine Test
₹1,439Succinylacetone Urine Test
₹5,000RXFP2 Gene Cryptorchidism NGS Genetic Test
₹20,000EFNB1 Gene Craniofrontonasal syndrome NGS Genetic Test
₹20,000MNX1 Gene Currarino syndrome NGS Genetic Test
₹20,000FGFR1 Gene Craniosynostosis, FGFR1 related NGS Genetic Test
₹20,000Reference 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.
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.