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SLC12A1 Gene Bartter syndrome type 1 NGS Genetic Test

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SLC12A1 Gene Bartter syndrome type 1 NGS Genetic Test

Short Name: SLC12A1 Gene Bartter Syndrome Type 1 NGS Test

Also known as: Bartter Syndrome Type 1 Genetic Test, SLC12A1 Mutation Analysis

SLC12A1 Gene Bartter syndrome type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing 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

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the SLC12A1 gene that cause Bartter Syndrome Type 1, aiding in accurate diagnosis, treatment planning, genetic counseling, and family risk assessment.

Test Code
2569
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, Next-Generation Sequencing
Step 1

Sample Collection

No special preparation required. Genetic counseling recommended prior to testing.

Method: Blood Draw

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site. Sample sent to lab for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss test implications and family history.
2
During the Test:Sample analysis using NGS technology in a certified laboratory.
3
After the Test:Report delivery with genetic counseling to interpret results.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the SLC12A1 gene that cause Bartter Syndrome Type 1, aiding in accurate diagnosis, treatment planning, genetic counseling, and family risk assessment.

How to Prepare

  • Provide blood sample or extracted DNA
  • Use FTA card for one drop blood if applicable
  • Ensure proper labeling and transport

Doctor's Notes

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

"Genetic testing for Bartter Syndrome Type 1 is crucial for accurate diagnosis and management, especially in families with a history of the disorder."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Draw

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: stable for several days at 4°C
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted sample
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SLC12A1 gene associated with Bartter Syndrome Type 1.
Positive: Pathogenic variant detected, confirming Bartter Syndrome Type 1
Negative: No pathogenic variant detected, but clinical correlation is needed
Variant of uncertain significance: Further testing and counseling recommended
⚠️ When to Consult a Doctor:

If symptoms persist, if there is a family history of Bartter Syndrome, or if test results are positive or uncertain, consult a healthcare professional for management and genetic counseling.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires interpretation by a geneticist
  • ⚠Results may include variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Psychological impact of results
  • ●Potential for variants of uncertain significance

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during handling
  • ●Technical issues with sequencing

Compare With Similar Tests

TestSLC12A1 Gene Bartter syndrome type 1 NGS Genetic Test
ComparisonSLC12A1 Gene Bartter syndrome type 1 NGS Genetic Test

Frequently Asked Questions

What is Bartter Syndrome Type 1?
Bartter Syndrome Type 1 is a rare genetic disorder caused by mutations in the SLC12A1 gene, leading to kidney dysfunction and electrolyte imbalances.
What causes Bartter Syndrome Type 1?
It is caused by mutations in the SLC12A1 gene, which impairs sodium and chloride reabsorption in the kidneys.
What are the symptoms of Bartter Syndrome Type 1?
Symptoms include dehydration, frequent urination, constipation, muscle weakness, and failure to thrive in infants.
How is Bartter Syndrome Type 1 diagnosed?
Diagnosis involves genetic testing, such as the NGS Genetic Test for SLC12A1 gene, along with blood and urine tests.
What is the SLC12A1 gene?
The SLC12A1 gene encodes a protein responsible for sodium and chloride reabsorption in the kidneys.
What is NGS Genetic Testing?
NGS (Next-Generation Sequencing) is a technology that analyzes multiple genes simultaneously to identify mutations causing genetic disorders.
How much does the test cost?
The SLC12A1 Gene Bartter Syndrome Type 1 NGS Genetic Test costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
Results indicate if pathogenic variants are detected in the SLC12A1 gene. Positive confirms diagnosis, negative may require further evaluation.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand implications, inheritance patterns, and management options.
Can Bartter Syndrome Type 1 be treated?
While there is no cure, treatment focuses on managing symptoms and electrolyte imbalances with medications and dietary adjustments.
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

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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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