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SCNN1A Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic Test

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SCNN1A Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic Test

Short Name: SCNN1A PHA1B NGS Test

Also known as: PHA1B, Pseudohypoaldosteronism type 1B

SCNN1A 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.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the SCNN1A gene for diagnosis of Pseudohypoaldosteronism type 1, autosomal recessive (PHA1B).

Test Code
5495
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 and genetic counseling recommended

Method: Cheek swab or blood sample

Step 2

Laboratory Analysis

Sample collection via cheek swab or blood draw

Step 3

Report Delivery

Sample sent to lab for analysis

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:DNA sample collection and processing.
3
After the Test:Analysis and report generation.

About This Test

Who Should Get This Test

To identify mutations in the SCNN1A gene for diagnosis of Pseudohypoaldosteronism type 1, autosomal recessive (PHA1B).

How to Prepare

  • Use sterile swab for cheek sample
  • For blood, use EDTA tube

Doctor's Notes

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

"Genetic testing for SCNN1A mutations is essential for confirming diagnosis and guiding treatment in suspected cases of PHA1B."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodCheek swab or blood sample

Understanding Your Results

Results indicate presence or absence of mutations in the SCNN1A gene.
Positive result: Pathogenic variant detected, confirm diagnosis
Negative result: No pathogenic variants, clinical correlation needed
⚠️ When to Consult a Doctor:

If symptoms of PHA1B are present or family history of the disorder.

Limitations

  • May not detect all types of mutations
  • Requires genetic counseling for interpretation

Risks & Considerations

  • Minimal risk from sample collection
  • Psychological impact of genetic results

Frequently Asked Questions

What is SCNN1A Gene Pseudohypoaldosteronism, type 1, autosomal recessive?
It is a rare genetic disorder caused by mutations in the SCNN1A gene, leading to renal salt wasting and dehydration, inherited in an autosomal recessive manner.
What are the symptoms of PHA1B?
Symptoms include frequent dehydration, inability to retain salt, failure to thrive, low blood pressure, high potassium levels, metabolic acidosis, and electrolyte imbalances.
How is PHA1B diagnosed?
Diagnosis is through genetic testing using NGS technology to sequence the SCNN1A gene and identify mutations.
What is the cost of the NGS Genetic Test at DNA Labs India?
The cost is INR 20,000, with free home sample collection available across India.
How do I order the test?
You can order the test online from the DNA Labs India website.
What samples are required for the test?
A DNA sample can be collected via cheek swab or blood sample.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in many cities across India.
What is NGS technology?
Next-Generation Sequencing (NGS) is a high-throughput method for sequencing multiple genes simultaneously, faster and more cost-effective than traditional methods.
Why is genetic testing important for PHA1B?
Early diagnosis through genetic testing allows for effective management, preventing serious health complications and improving outcomes.
Can the test be done for children?
Yes, the test can be performed on individuals of all ages, especially infants and children with symptoms.
What should I do after receiving the test results?
Consult a healthcare provider or genetic counselor to understand the results and discuss management 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 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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