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SLC12A5 Gene Bartter syndrome NGS Genetic Test

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SLC12A5 Gene Bartter syndrome NGS Genetic Test

SLC12A5 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 TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To detect mutations in the SLC12A5 gene associated with Bartter syndrome for accurate diagnosis and management.

Test Code
2564
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Bartter syndrome.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Sample collection via blood draw or FTA card.
3
After the Test:Results are available in 3 to 4 weeks; follow-up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

To detect mutations in the SLC12A5 gene associated with Bartter syndrome for accurate diagnosis and management.

How to Prepare

  • Blood sample collection by venipuncture
  • Use of FTA card for one drop blood if applicable
  • Ensure proper labeling and handling

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SLC12A5 gene. A positive result suggests a genetic cause for Bartter syndrome, while a negative result may require further testing.
📊

Positive

Pathogenic variant detected in SLC12A5 gene, consistent with Bartter syndrome diagnosis.

📊

Negative

No pathogenic variant detected; clinical correlation and additional tests may be needed.

⚠️ When to Consult a Doctor:

If experiencing symptoms of Bartter syndrome such as dehydration, muscle weakness, or fatigue, or with a family history of the disorder.

Frequently Asked Questions

What is Bartter syndrome?
Bartter syndrome is a rare genetic disorder that affects the kidneys' ability to reabsorb salt and electrolytes, leading to symptoms like dehydration and muscle weakness.
What causes Bartter syndrome?
It is caused by mutations in genes such as SLC12A5, which disrupt chloride ion transport in the kidneys.
What is the SLC12A5 gene?
The SLC12A5 gene provides instructions for making the KCC1 protein, which regulates chloride transport in the kidney.
What is an NGS genetic test?
Next-generation sequencing (NGS) is a high-throughput DNA sequencing technology that can analyze multiple genes simultaneously to detect mutations.
How is Bartter syndrome diagnosed?
Diagnosis involves clinical evaluation, laboratory tests for electrolyte abnormalities, and genetic testing to identify mutations.
What are the symptoms of Bartter syndrome?
Symptoms include dehydration, muscle weakness, fatigue, nausea, vomiting, constipation, increased urine output, and weight loss.
What is the cost of the SLC12A5 Gene Bartter Syndrome NGS Genetic Test?
The cost is approximately INR 20,000 in India, and it may be covered by health insurance.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What samples are required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is genetic counseling recommended before testing?
Yes, a genetic counseling session is advised to discuss family history and draw a pedigree chart.
What should I do if I test positive?
Consult a healthcare professional for further evaluation, management, and potential treatment options.
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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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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