SPINT2 Gene Diarrhea type 3, secretory sodium, congenital, syndromic NGS Genetic Test
Short Name: SPINT2 Gene Diarrhea Type 3 NGS Test
Also known as: Congenital Sodium Diarrhea Type 3, SPINT2-related Diarrhea
SPINT2 Gene Diarrhea type 3, secretory sodium, congenital, syndromic 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 SPINT2 Gene Diarrhea Type 3 NGS Genetic Test is to detect mutations in the SPINT2 gene associated with congenital secretory sodium diarrhea. This test aids in accurate diagnosis, differentiation from other diarrheal disorders, and informs personalized management strategies, including rehydration therapy, dietary adjustments, and growth monitoring.
- Test Code
- 1971
- 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
No specific preparation is required. Ensure a valid prescription and genetic counseling session is scheduled.
Method: Venipuncture or finger prick
Laboratory Analysis
A blood sample is drawn from a vein or via a finger prick onto an FTA card. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Store the sample as instructed for transport to the laboratory.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SPINT2 Gene Diarrhea Type 3 NGS Genetic Test is to detect mutations in the SPINT2 gene associated with congenital secretory sodium diarrhea. This test aids in accurate diagnosis, differentiation from other diarrheal disorders, and informs personalized management strategies, including rehydration therapy, dietary adjustments, and growth monitoring.
How to Prepare
- Use sterile equipment for sample collection
- For blood on FTA card, apply one drop and let it dry completely
- Label samples with patient details and test ID
- Transport at ambient temperature within specified stability period
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for SPINT2 mutations is crucial for early diagnosis and management of congenital diarrhea syndromes in families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Sample contaminated or hemolyzed
- Incorrect labeling or missing patient information
Understanding Your Results
Consult a genetic counselor or gastroenterologist if symptoms persist, worsen, or if there is a family history of similar conditions. Genetic counseling is recommended for all positive results.
Limitations
- ⚠May not detect all genetic variants, including large deletions or intronic mutations
- ⚠Results require correlation with clinical presentation and family history
- ⚠Test does not rule out other causes of diarrhea
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Potential psychological impact of genetic results
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Hemolyzed blood specimen
- ●Incorrect sample storage or handling
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Frequently Asked Questions
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