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SCNN1B Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic Test

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SCNN1B Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic Test

SCNN1B Gene Pseudohypoaldosteronism, type 1, autosomal recessive 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.

Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to detect mutations in the SCNN1B gene to confirm a diagnosis of autosomal recessive pseudohypoaldosteronism type 1, enabling appropriate medical management and genetic counseling.

Test Code
5498
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

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

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Sample collection via venipuncture or FTA card.

Step 3

Report Delivery

Sample sent to laboratory for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling. No specific preparation required.
2
During the Test:Sample collection via venipuncture or FTA card.
3
After the Test:Sample sent to laboratory for analysis.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the SCNN1B gene to confirm a diagnosis of autosomal recessive pseudohypoaldosteronism type 1, enabling appropriate medical management and genetic counseling.

How to Prepare

  • No fasting required
  • Ensure proper identification
  • Sample should be collected in a sterile container

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"This genetic test is crucial for diagnosing autosomal recessive pseudohypoaldosteronism, guiding treatment and family planning."

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 or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood sample stable for 48 hours at 2-8°C
Sample Rejection Criteria:
  • Hemolyzed or lipemic sample
  • Insufficient volume

Understanding Your Results

Results indicate the presence or absence of mutations in the SCNN1B gene.
📊

Mutation detected

Confirms diagnosis of autosomal recessive pseudohypoaldosteronism type 1.

📊

No mutation detected

Reduces likelihood of the disorder, but clinical correlation is advised.

⚠️ When to Consult a Doctor:

If symptoms of salt imbalance or developmental delays are present, consult a geneticist or nephrologist.

Limitations

  • May not detect all types of mutations
  • Results require clinical correlation

Risks & Considerations

  • Minimal risk from blood draw
  • Psychological impact of genetic results

Interfering Factors

  • Sample contamination
  • DNA degradation

Frequently Asked Questions

What is SCNN1B Gene Pseudohypoaldosteronism type 1?
It is a rare genetic disorder caused by mutations in the SCNN1B gene, affecting salt and water balance in the body.
How is the NGS Genetic Test performed?
The test uses next-generation sequencing to analyze DNA from a blood or saliva sample for mutations in the SCNN1B gene.
What are the common symptoms of this disorder?
Symptoms include dehydration, low blood pressure, low sodium and potassium levels, frequent urination, excessive sweating, and developmental delays.
Who should consider this genetic test?
Individuals with symptoms of pseudohypoaldosteronism or a family history of the disorder should consider testing.
What is the cost of the test in India?
The test costs INR 20,000, with free home sample collection available.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, free home collection is offered in many cities across India.
What is the accuracy of the NGS Genetic Test?
NGS technology provides high accuracy and comprehensive analysis of the SCNN1B gene.
Can children undergo this genetic test?
Yes, the test can be performed on individuals of all ages, including children.
What does a positive test result mean?
A positive result confirms the presence of SCNN1B gene mutations, indicating autosomal recessive pseudohypoaldosteronism type 1.
Is genetic counseling recommended before or after the test?
Yes, genetic counseling is advised to understand the implications and for family planning.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, but psychological impact of results should be considered.
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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