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SLC12A3 Gene Bartter syndrome NGS Genetic Test

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SLC12A3 Gene Bartter syndrome NGS Genetic Test

Short Name: SLC12A3 Gene Bartter Syndrome Test

Also known as: Type 1 Bartter Syndrome, SLC12A3-related Bartter syndrome

SLC12A3 Gene Bartter syndrome 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 Results are typically available within 3-4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the SLC12A3 Gene Bartter Syndrome NGS Genetic Test is to diagnose Bartter syndrome caused by mutations in the SLC12A3 gene, confirm the specific genetic variant, guide treatment decisions, and facilitate family genetic counseling.

Test Code
2568
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically available within 3-4 weeks after sample receipt.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

A small blood sample is collected via venipuncture or using an FTA card for one drop of blood.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding; store sample at ambient room temperature.

Timeline: Results are typically available within 3-4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Blood sample is collected and sent to the lab for NGS analysis.
3
After the Test:Results are reviewed with a genetic counselor or physician for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of the SLC12A3 Gene Bartter Syndrome NGS Genetic Test is to diagnose Bartter syndrome caused by mutations in the SLC12A3 gene, confirm the specific genetic variant, guide treatment decisions, and facilitate family genetic counseling.

How to Prepare

  • Ensure patient is relaxed
  • Use sterile equipment
  • Label sample correctly
  • Transport to lab promptly

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This genetic test is crucial for confirming Bartter syndrome caused by SLC12A3 gene mutations and guiding personalized treatment plans."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml blood
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Ambient Room TemperatureUp to 7 days for blood on FTA card
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SLC12A3 gene associated with Bartter syndrome.
📊

Pathogenic variant detected

Confirms diagnosis of SLC12A3-related Bartter syndrome; recommend clinical management and family screening.

📊

No pathogenic variant detected

Bartter syndrome due to SLC12A3 mutations is unlikely; consider other genetic or non-genetic causes.

⚠️ When to Consult a Doctor:

Consult a nephrologist or geneticist if symptoms persist, results are positive, or for family planning advice.

Limitations

  • May not detect all possible mutations in the SLC12A3 gene
  • Requires genetic counseling for interpretation
  • Results should be correlated with clinical findings

Risks & Considerations

  • Minor bruising at puncture site
  • Rare infection risk
  • Emotional impact of genetic results

Interfering Factors

  • Sample contamination
  • Degraded DNA quality
  • Incorrect sample storage

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ComparisonSLC12A3 Gene Bartter syndrome NGS Genetic Test

Frequently Asked Questions

What is Bartter syndrome?
Bartter syndrome is a rare genetic disorder affecting the kidneys, leading to salt wasting, metabolic alkalosis, and low potassium levels.
What is the SLC12A3 gene?
The SLC12A3 gene encodes a protein essential for sodium and chloride reabsorption in the kidneys; mutations cause Type 1 Bartter syndrome.
How is the SLC12A3 Gene Bartter Syndrome NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze the SLC12A3 gene from a blood or DNA sample for mutations.
What is the cost of the test?
The test costs INR 20000, with free home sample collection available across India.
Who should get this test?
Individuals with symptoms like excessive urination, dehydration, or muscle weakness, or those with a family history of Bartter syndrome.
What are the symptoms of Bartter syndrome?
Common symptoms include excessive urination, dehydration, muscle cramps, nausea, fatigue, and high blood pressure.
How long does it take to get results?
Results are typically available within 3-4 weeks after sample collection.
Is the test painful?
The test involves a standard blood draw, which may cause minor discomfort but is generally not painful.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings.
What if the test result is positive?
A positive result confirms Bartter syndrome; consult a nephrologist or geneticist for management and family counseling.
Is genetic counseling required?
Yes, genetic counseling is recommended before and after testing to understand implications and results.
Are there any risks associated with the test?
Risks are minimal, such as bruising at the blood draw site; emotional impact may require counseling.
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.

LIMS Integration

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.

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