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SLC26A3 Gene Diarrhea type 1, secretory chloride, congenital NGS Genetic Test

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SLC26A3 Gene Diarrhea type 1, secretory chloride, congenital NGS Genetic Test

Short Name: SLC26A3 Gene Test

Also known as: Congenital Chloride Diarrhea, Diarrhea Type 1

SLC26A3 Gene Diarrhea type 1, secretory chloride, congenital NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 TestUnisexAll ages, symptoms often appear at birth🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Diarrhea Type 1 caused by mutations in the SLC26A3 gene using Next-Generation Sequencing (NGS) technology, enabling appropriate medical management and genetic counseling.

Test Code
1967
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 Technology
Step 1

Sample Collection

Genetic counseling session to draw a pedigree chart and discuss family history. Ensure proper documentation of clinical symptoms and prior medical history.

Method: Venipuncture for blood samples

Step 2

Laboratory Analysis

Standard blood draw procedure using venipuncture. For FTA card, a single drop of blood is collected. Ensure aseptic technique to avoid contamination.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as per guidelines (ambient room temperature) and transport to the laboratory promptly.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are essential before sample collection to ensure appropriate test selection and informed consent.
2
During the Test:The NGS test involves sequencing the SLC26A3 gene from the provided sample in a certified laboratory with strict quality controls.
3
After the Test:Results are analyzed by geneticists and reported with recommendations. Post-test counseling is advised to discuss findings and next steps.

About This Test

Who Should Get This Test

To diagnose Diarrhea Type 1 caused by mutations in the SLC26A3 gene using Next-Generation Sequencing (NGS) technology, enabling appropriate medical management and genetic counseling.

How to Prepare

  • No fasting required for this test
  • Avoid hemolyzed or clotted samples
  • Use EDTA tubes for blood collection
  • Label samples correctly with patient details

Doctor's Notes

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

"Early genetic testing for SLC26A3 gene mutations can aid in timely management of congenital chloride diarrhea and provide guidance for family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood samples

Sample Stability

Blood samples stable for up to 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient sample volume
  • Incorrect sample type or container
  • Missing patient identification or consent

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SLC26A3 gene. A positive result confirms diagnosis of congenital chloride diarrhea, while a negative result may require further clinical assessment.
Positive: Pathogenic variant detected – confirms Diarrhea Type 1 diagnosis
Negative: No pathogenic variants detected – may suggest other etiologies
Variant of Uncertain Significance (VUS) – requires genetic counseling and possible family studies
Inconclusive – repeat testing or alternative methods may be needed
⚠️ When to Consult a Doctor:

Consult a healthcare professional if symptoms of chronic diarrhea, dehydration, or growth delays persist, or if genetic test results are positive or inconclusive for family planning guidance.

Limitations

  • ⚠May not detect all types of genetic variants, such as large deletions or duplications
  • ⚠Not suitable for carrier screening in all cases without family history
  • ⚠Results require interpretation by a qualified geneticist
  • ⚠Does not replace clinical evaluation or other diagnostic tests

Risks & Considerations

  • ●Minimal risks associated with blood draw, such as bruising, swelling, or infection at the puncture site
  • ●No significant risks from the genetic testing process itself

Interfering Factors

  • ●Sample contamination during collection or transport
  • ●Improper storage of blood or DNA samples
  • ●Use of degraded or hemolyzed samples
  • ●Recent blood transfusions affecting DNA analysis

Frequently Asked Questions

What is the SLC26A3 gene test?
It is a genetic test using NGS technology to detect mutations in the SLC26A3 gene, which causes Diarrhea Type 1 or congenital chloride diarrhea.
Who should consider this test?
Individuals with chronic watery diarrhea from birth, dehydration, growth delays, or a family history of congenital diarrhea.
How is the test performed?
A blood sample is collected, and DNA is extracted for NGS analysis of the SLC26A3 gene to identify pathogenic variants.
What is the cost of the test in India?
The cost is INR 20000 at DNA Labs India, inclusive of home collection and genetic counseling.
Is home sample collection available?
Yes, free home collection is offered in many cities across India for online bookings.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What do the results mean?
A positive result confirms congenital chloride diarrhea, while a negative result may indicate other causes. Genetic counseling helps interpret findings.
Are there any risks to the test?
The test involves minimal risks from blood draw, such as bruising. No significant genetic testing risks are involved.
Is the test covered by insurance?
Coverage depends on insurance plans; check with your provider. This test is not typically covered under government schemes like PMJAY.
What is congenital chloride diarrhea?
It is a rare genetic disorder caused by SLC26A3 gene mutations, leading to impaired chloride absorption in the intestine and chronic watery diarrhea.
How is this disorder inherited?
Congenital chloride diarrhea follows an autosomal recessive inheritance pattern, requiring two mutated copies of the SLC26A3 gene.
What are the treatment options after diagnosis?
Treatment focuses on managing symptoms with fluid and electrolyte replacement. Genetic counseling is recommended for family planning.
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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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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