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SLC12A2 Gene Bartter syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SLC12A2 Gene Bartter syndrome NGS Genetic Test

Short Name: SLC12A2 Bartter Syndrome NGS Test

Also known as: Bartter Syndrome Genetic Test, SLC12A2 Mutation Analysis, Bartter Syndrome NGS Test

SLC12A2 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the SLC12A2 Gene Bartter Syndrome NGS Genetic Test is to detect mutations in the SLC12A2 gene that cause Bartter Syndrome, enabling accurate diagnosis, guiding treatment strategies, and facilitating genetic counseling for affected individuals and families.

Test Code
2566
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

No specific preparation required. Provide clinical history and undergo genetic counseling as recommended.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture or a drop of blood on an FTA card. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities immediately.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Understand the test purpose, provide informed consent, and complete genetic counseling if required.
2
During the Test:Sample collection via blood draw or FTA card. The test involves NGS analysis in a certified laboratory.
3
After the Test:Wait for results, which will be delivered online. Follow up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of the SLC12A2 Gene Bartter Syndrome NGS Genetic Test is to detect mutations in the SLC12A2 gene that cause Bartter Syndrome, enabling accurate diagnosis, guiding treatment strategies, and facilitating genetic counseling for affected individuals and families.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Label samples correctly
  • Transport samples at ambient temperature

Doctor's Notes

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

"Early genetic testing for Bartter Syndrome via SLC12A2 gene analysis can guide personalized treatment and management, improving patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA Card

Sample Stability

Ambient Room TemperatureStable for several days on FTA card or as per lab guidelines
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Incorrect labeling
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of mutations in the SLC12A2 gene. Positive results confirm a genetic basis for Bartter Syndrome, while negative results may require further clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of Bartter Syndrome due to SLC12A2 mutation. Genetic counseling and management recommended.

📊

Negative for pathogenic variant

No mutations detected in SLC12A2 gene. Clinical correlation and additional testing may be needed.

📊

Variant of uncertain significance

Genetic variant found but clinical significance unknown. Further family studies and monitoring advised.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms of Bartter Syndrome are present, such as excessive urination, dehydration, or growth delays, or after receiving test results for management guidance.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection or processing
  • ●Insufficient DNA yield

Frequently Asked Questions

What is Bartter Syndrome?
Bartter Syndrome is a rare genetic disorder affecting the kidneys, causing electrolyte imbalances due to mutations in genes like SLC12A2.
What does the SLC12A2 Gene NGS Genetic Test detect?
It detects mutations in the SLC12A2 gene that are responsible for Bartter Syndrome using next-generation sequencing technology.
Who should consider this test?
Individuals with symptoms like excessive urination, dehydration, muscle weakness, or delayed growth, especially children, should consider this test.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
How is the sample collected?
Sample is collected via blood draw or a drop of blood on an FTA card, with home collection options available.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test accurate?
Yes, the test uses NGS technology for high accuracy in detecting genetic mutations, but results should be interpreted by a genetic specialist.
What are the risks of the test?
Risks are minimal, primarily related to blood draw, such as bruising. Genetic counseling is recommended to address psychological aspects.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
What do positive results mean?
Positive results confirm a mutation in the SLC12A2 gene, indicating Bartter Syndrome. Consult a doctor for management.
Can the test be done at home?
Yes, free home sample collection is available for online bookings in many cities across India.
Is genetic counseling provided?
Yes, genetic counseling is recommended before and after testing to understand results and implications.
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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For Hospitals & Clinics

Reference 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.

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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