KIF1BP Gene Hirschsprung disease NGS Genetic Test
Short Name: KIF1BP Gene Hirschsprung Disease Test
Also known as: Congenital Aganglionic Megacolon, KIF1BP Mutation Test, Hirschsprung Disease Genetic Test
KIF1BP 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the KIF1BP Gene Hirschsprung Disease NGS Genetic Test is to identify pathogenic mutations in the KIF1BP gene that cause Hirschsprung disease. This test aids in confirming diagnosis, assessing disease severity, guiding treatment plans, and providing genetic counseling for families. It is essential for patients with symptoms of Hirschsprung disease or a family history of the condition.
- Test Code
- 5772
- ICD Code
- Q43.1
- 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)
Sample Collection
Clinical history of the patient is required. A genetic counseling session is recommended to draw a pedigree chart of family members affected with Hirschsprung disease.
Method: Venipuncture for blood, Spot collection for FTA card
Laboratory Analysis
Blood sample is collected via venipuncture into an EDTA tube, or a drop of blood is placed on an FTA card. The process is quick and minimally invasive.
Report Delivery
Samples are labeled, stored at ambient room temperature, and transported to the laboratory for processing. Ensure proper documentation and chain of custody.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the KIF1BP Gene Hirschsprung Disease NGS Genetic Test is to identify pathogenic mutations in the KIF1BP gene that cause Hirschsprung disease. This test aids in confirming diagnosis, assessing disease severity, guiding treatment plans, and providing genetic counseling for families. It is essential for patients with symptoms of Hirschsprung disease or a family history of the condition.
How to Prepare
- Provide detailed clinical history and family pedigree
- Use sterile equipment for blood collection
- For FTA card, ensure one drop of blood is applied correctly
- Avoid hemolysis by gentle mixing
- Store samples at room temperature and ship promptly
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS test is vital for early diagnosis of Hirschsprung disease in families with genetic predisposition, enabling timely intervention and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Contaminated or improperly labeled samples
- Samples stored incorrectly
Understanding Your Results
Positive for pathogenic variant
Confirms genetic etiology of Hirschsprung disease; genetic counseling and family screening recommended.
Negative for pathogenic variant
No mutations detected in KIF1BP gene; consider other genetic or non-genetic causes.
Variant of uncertain significance (VUS)
Further research needed; clinical correlation and follow-up testing advised.
Consult a doctor if symptoms of Hirschsprung disease persist, such as chronic constipation, abdominal distension, or failure to pass meconium in newborns. Also, seek genetic counseling if there is a family history of the condition.
Limitations
- ⚠May not detect all genetic variants or mutations outside the KIF1BP gene
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
- ⚠Does not replace biopsy for definitive diagnosis in some cases
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising, infection, or discomfort
- ●No significant risks from FTA card collection
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Hemolyzed blood samples
- ●Improper sample storage or handling
Compare With Similar Tests
| Test | KIF1BP Gene Hirschsprung disease NGS Genetic Test | RET gene test | Rectal biopsy | Barium enema | Anorectal manometry |
|---|---|---|---|---|---|
| Comparison | KIF1BP Gene Hirschsprung disease NGS Genetic Test |
Frequently Asked Questions
What is Hirschsprung disease?
What is the KIF1BP gene?
How is the KIF1BP Gene NGS Genetic Test performed?
What is the cost of the test in India?
Who should get this test?
What sample is required for the test?
How long does it take to get results?
Is fasting required before the test?
What do the results mean?
Is the test covered by insurance?
Can the test be done at home?
What files are provided with the report?
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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.
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