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NR3C2 Gene Pseudohypoaldosteronism, type 1, autosomal dominant NGS Genetic Test

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NR3C2 Gene Pseudohypoaldosteronism, type 1, autosomal dominant NGS Genetic Test

Short Name: NR3C2 Gene PHA1 NGS Test

Also known as: Pseudohypoaldosteronism type 1, PHA1, Autosomal dominant pseudohypoaldosteronism

NR3C2 Gene Pseudohypoaldosteronism, type 1, autosomal dominant 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

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to diagnose pseudohypoaldosteronism type 1 by identifying mutations in the NR3C2 gene, enabling accurate diagnosis, management, and genetic counseling for affected individuals and families.

Test Code
5496
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 of the patient and a genetic counseling session to draw a pedigree chart of affected family members are recommended before testing.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture, or extracted DNA or one drop of blood on an FTA card is used.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store samples as per lab instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling. No fasting is required.
2
During the Test:A blood sample is drawn or DNA extracted for analysis.
3
After the Test:Results are available in 3-4 weeks. Follow up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose pseudohypoaldosteronism type 1 by identifying mutations in the NR3C2 gene, enabling accurate diagnosis, management, and genetic counseling for affected individuals and families.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection tubes
  • Label samples accurately

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for NR3C2 mutations can confirm diagnosis and guide management for pseudohypoaldosteronism type 1, helping to prevent complications like dehydration and heart arrhythmias."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood: 2-8°C for 72 hours
Extracted DNA: -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the NR3C2 gene. Positive results confirm pseudohypoaldosteronism type 1, while negative results may require further clinical evaluation.
Positive: Pathogenic variant detected, consistent with PHA1 diagnosis
Negative: No pathogenic variants detected, but clinical symptoms may warrant additional testing
Variant of uncertain significance: Requires further investigation and genetic counseling
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms like dehydration, low blood pressure, or heart arrhythmias persist, or if genetic test results are positive or uncertain.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA

Frequently Asked Questions

What is pseudohypoaldosteronism type 1?
Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disorder that affects the body's ability to regulate sodium and potassium levels due to mutations in the NR3C2 gene.
What causes PHA1?
PHA1 is caused by mutations in the NR3C2 gene, which encodes the mineralocorticoid receptor, leading to autosomal dominant inheritance.
What are the symptoms of PHA1?
Symptoms include dehydration, weakness, fatigue, low blood pressure, slow growth, seizures, and heart arrhythmias.
How is PHA1 diagnosed?
Diagnosis involves clinical evaluation, blood tests showing high potassium and low sodium, and genetic testing to identify NR3C2 gene mutations.
What is the NR3C2 gene?
The NR3C2 gene provides instructions for making the mineralocorticoid receptor protein, crucial for regulating sodium and potassium levels.
What does the NGS genetic test involve?
The test uses next-generation sequencing to analyze the NR3C2 gene for mutations from a blood sample or extracted DNA.
How accurate is the test?
NGS genetic testing is highly accurate for detecting mutations in the NR3C2 gene, providing a definitive diagnosis when pathogenic variants are found.
What is the cost of the test?
The cost of the NR3C2 Gene Pseudohypoaldosteronism type 1 NGS Genetic Test is 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 should I do if the test is positive?
If positive, consult a healthcare provider for management, which may include electrolyte monitoring and treatment, and consider genetic counseling.
Is genetic counseling recommended?
Yes, genetic counseling is recommended before and after testing to understand implications, family risks, and 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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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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