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SCNN1B Gene Liddle syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SCNN1B Gene Liddle syndrome NGS Genetic Test

Short Name: SCNN1B Gene Liddle Syndrome Test

Also known as: Liddle Syndrome Genetic Test, SCNN1B Mutation Analysis, ENaC Gene Test

SCNN1B Gene Liddle 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

The purpose of the SCNN1B Gene Liddle Syndrome NGS Genetic Test is to identify pathogenic mutations in the SCNN1B gene that cause Liddle syndrome. This aids in accurate diagnosis, differentiation from other forms of hypertension, and guides personalized treatment plans to prevent complications such as cardiovascular damage.

Test Code
2611
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 family pedigree during genetic counseling.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm, or a drop of blood can be collected on an FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities unless advised otherwise.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to assess family history and draw a pedigree chart. No fasting required.
2
During the Test:Blood sample collection via venipuncture or FTA card. Procedure takes about 10-15 minutes.
3
After the Test:Monitor the puncture site for any discomfort. Results will be available in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of the SCNN1B Gene Liddle Syndrome NGS Genetic Test is to identify pathogenic mutations in the SCNN1B gene that cause Liddle syndrome. This aids in accurate diagnosis, differentiation from other forms of hypertension, and guides personalized treatment plans to prevent complications such as cardiovascular damage.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for blood draw
  • Label samples correctly with patient details
  • Store samples at ambient temperature if using FTA card

Doctor's Notes

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

"This test is essential for diagnosing Liddle syndrome, a rare genetic disorder causing hypertension and hypokalemia, often misdiagnosed as essential hypertension."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples: stable for 24 hours at room temperature
Extracted DNA: stable for years if stored properly
FTA card samples: stable for months at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrect labeling or missing patient information
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the SCNN1B gene. A positive result confirms Liddle syndrome, while a negative result may require further testing if clinical suspicion remains high.
📊

Pathogenic variant detected

Confirms diagnosis of Liddle syndrome. Recommend genetic counseling and targeted treatment.

📊

Likely pathogenic variant detected

Strong indication of Liddle syndrome. Clinical correlation and family testing advised.

📊

Variant of uncertain significance (VUS)

Uncertain clinical significance. Repeat testing or functional studies may be needed.

📊

No pathogenic variant detected

Liddle syndrome unlikely based on this gene. Consider other genetic or non-genetic causes.

⚠️ When to Consult a Doctor:

Consult a doctor if you have symptoms like hypertension, hypokalemia, or a family history of Liddle syndrome. After testing, discuss results with a geneticist or nephrologist for management.

Limitations

  • May not detect all types of mutations, such as large deletions or duplications
  • Results require interpretation by a geneticist or healthcare provider
  • Does not rule out other genetic causes of hypertension
  • Genetic counseling is essential for understanding results

Risks & Considerations

  • Minor bruising or pain at the blood draw site
  • Rare risk of infection
  • Fainting or dizziness during blood collection

Interfering Factors

  • Poor sample quality or degradation
  • Contamination during sample collection or processing
  • Recent blood transfusion may affect DNA analysis
  • Inadequate sample volume

Frequently Asked Questions

What is Liddle syndrome?
Liddle syndrome is a rare genetic disorder caused by mutations in the SCNN1B gene, leading to hypertension, hypokalemia, and metabolic alkalosis.
What are the symptoms of Liddle syndrome?
Symptoms include high blood pressure, low potassium levels, metabolic alkalosis, edema, fatigue, and muscle weakness.
How is Liddle syndrome diagnosed?
Diagnosis is confirmed through genetic testing, such as the SCNN1B Gene NGS Test, which detects mutations in the SCNN1B gene.
What is the cost of the SCNN1B Gene Liddle Syndrome NGS Genetic Test in India?
The cost is INR 20000 at DNA Labs India, which includes home sample collection and a clinical report.
What sample is required for this test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What should I do if I test positive for Liddle syndrome?
Consult a geneticist or nephrologist for treatment options, which may include potassium-sparing diuretics and lifestyle changes.
Can this test be done for children?
Yes, the test is suitable for all ages, but genetic counseling is recommended for pediatric cases.
What is the accuracy of the NGS Genetic Test?
NGS technology provides high accuracy for detecting mutations, but results should be interpreted by a qualified professional.
Are there any risks associated with the test?
Risks are minimal and include minor bruising or pain at the blood draw site, similar to standard blood tests.
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 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.

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