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KCNJ1 Gene Bartter syndrome type 2 NGS Genetic Test

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KCNJ1 Gene Bartter syndrome type 2 NGS Genetic Test

Short Name: KCNJ1 Bartter Type 2 NGS Test

Also known as: KCNJ1 mutation test, Bartter syndrome type 2 genetic test, KCNJ1 gene sequencing

KCNJ1 Gene Bartter syndrome type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Genetic 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 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

To diagnose Bartter Syndrome Type 2 by detecting mutations in the KCNJ1 gene using Next-Generation Sequencing technology, aiding in clinical management and genetic counseling.

Test Code
2567
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
Next-Generation Sequencing (NGS), Genetic Sequencing
Step 1

Sample Collection

Genetic counseling session recommended to discuss test implications and draw a pedigree chart.

Method: Venipuncture or Saliva Collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or saliva sample using a collection kit.

Step 3

Report Delivery

Sample is labeled and sent to the laboratory for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a geneticist or nephrologist for clinical evaluation and genetic counseling.
2
During the Test:Sample collection procedure as per instructions, typically non-invasive.
3
After the Test:Wait for results and schedule a follow-up with the referring physician for interpretation.

About This Test

Who Should Get This Test

To diagnose Bartter Syndrome Type 2 by detecting mutations in the KCNJ1 gene using Next-Generation Sequencing technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Fasting not required
  • Avoid eating or drinking 30 minutes before saliva collection
  • Bring valid ID and doctor's prescription

Doctor's Notes

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

"As a clinical geneticist, I recommend genetic testing for KCNJ1 mutations in patients with suspected Bartter Syndrome Type 2 to confirm diagnosis and guide family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube
Collection MethodVenipuncture or Saliva Collection

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the KCNJ1 gene associated with Bartter Syndrome Type 2.
📊

Positive

Mutation detected in KCNJ1 gene, consistent with Bartter Syndrome Type 2. Clinical correlation and genetic counseling recommended.

📊

Negative

No pathogenic mutation detected. However, clinical symptoms may require further evaluation.

⚠️ When to Consult a Doctor:

If symptoms such as excessive thirst, dehydration, or muscle cramps persist, or if there is a family history of Bartter syndrome, consult a nephrologist or geneticist.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a substitute for clinical evaluation

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Genetic privacy concerns
  • ●Psychological impact of results

Interfering Factors

  • ●Contaminated sample
  • ●Degraded DNA
  • ●Improper sample storage

Compare With Similar Tests

TestKCNJ1 Gene Bartter syndrome type 2 NGS Genetic TestSLC12A3 Gene Bartter Syndrome TestBSND Gene Bartter Syndrome Test
ComparisonKCNJ1 Gene Bartter syndrome type 2 NGS Genetic TestDetects mutations for Gitelman syndrome, another renal tubular disorder with similar symptoms.Identifies mutations for Bartter Syndrome Type 4, associated with sensorineural deafness.

Frequently Asked Questions

What is Bartter Syndrome Type 2?
Bartter Syndrome Type 2 is a rare genetic disorder caused by mutations in the KCNJ1 gene, leading to kidney dysfunction and electrolyte imbalances.
What is the KCNJ1 gene?
The KCNJ1 gene encodes a potassium channel in the kidney; mutations can cause Bartter Syndrome Type 2.
How is Bartter Syndrome Type 2 diagnosed?
Diagnosis involves genetic testing for KCNJ1 mutations, along with blood and urine tests to assess electrolyte levels and kidney function.
What does the NGS Genetic Test involve?
The test uses Next-Generation Sequencing to analyze the KCNJ1 gene from a blood or saliva sample for mutations.
What is the cost of the test?
The cost is INR 20000, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the symptoms of Bartter Syndrome Type 2?
Symptoms include excessive thirst, frequent urination, dehydration, weakness, constipation, muscle cramps, and high blood pressure.
Is genetic testing necessary for diagnosis?
Genetic testing is recommended for accurate diagnosis, especially if clinical symptoms suggest Bartter Syndrome Type 2.
Can the test be done on children?
Yes, the test can be performed on individuals of all ages, including children, with appropriate sample collection.
What should I do if the test is positive?
A positive result indicates a mutation; consult a geneticist or nephrologist for management and family counseling.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not typically covered under government schemes like PMJAY or CGHS.
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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