Skip to main content
DNA Labs India

SCNN1G Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SCNN1G Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic Test

Also known as: Pseudohypoaldosteronism type 1, PHA1

SCNN1G Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Sanger Sequencing, PCR 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose SCNN1G gene mutations for pseudohypoaldosteronism type 1, enabling accurate clinical management and genetic counseling.

Test Code
5503
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, Sanger Sequencing, PCR
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a family pedigree chart.

Method: Blood draw or FTA card

Step 2

Laboratory Analysis

Blood sample will be drawn or FTA card with one drop of blood will be used.

Step 3

Report Delivery

Sample will be processed for NGS analysis. Report will be available in 3 to 4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling to draw a family pedigree chart.
2
During the Test:Blood sample will be drawn or FTA card with one drop of blood will be used.
3
After the Test:Sample will be processed for NGS analysis. Report will be available in 3 to 4 weeks.

About This Test

Who Should Get This Test

To diagnose SCNN1G gene mutations for pseudohypoaldosteronism type 1, enabling accurate clinical management and genetic counseling.

How to Prepare

  • No fasting required
  • Bring identification and prescription
  • Inform about any medications

Doctor's Notes

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

"This genetic test is crucial for diagnosing pseudohypoaldosteronism and guiding treatment in nephrology practice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or FTA card

Sample Stability

Blood samples stable for 24 hours at room temperature
FTA cards stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SCNN1G gene. Positive results confirm diagnosis, while negative results may require further testing.
Positive: Pathogenic variant detected, consistent with PHA1
Negative: No pathogenic variants detected, consider other causes
Variant of uncertain significance: Requires further evaluation
⚠️ When to Consult a Doctor:

If symptoms persist or if genetic counseling is needed for family planning.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare infection risk

Interfering Factors

  • ●Sample degradation
  • ●Contamination
  • ●Technical errors in sequencing

Compare With Similar Tests

TestSCNN1G Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic TestWhole Exome SequencingSanger Sequencing
ComparisonSCNN1G Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic Test

Frequently Asked Questions

What is SCNN1G Gene Pseudohypoaldosteronism?
It is a rare genetic disorder caused by mutations in the SCNN1G gene, affecting salt and water balance in the body, leading to symptoms like dehydration and electrolyte imbalances.
What are the symptoms of this disorder?
Symptoms include dehydration, low blood pressure, frequent urination, failure to thrive in infants, delayed growth and development, and electrolyte imbalances.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the SCNN1G gene for mutations from a blood or DNA sample.
What is the cost of the test?
The cost is INR 20,000 at DNA Labs India, which includes genetic counseling and reporting.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates the presence of pathogenic variants in the SCNN1G gene, confirming a diagnosis of pseudohypoaldosteronism type 1.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; consult a genetic counselor for prenatal options.
Is genetic counseling included?
Yes, genetic counseling is included to help interpret results and draw family pedigree charts.
What are the treatment options for PHA1?
Treatment focuses on managing symptoms, such as salt supplementation and monitoring electrolytes, under medical supervision.
How accurate is the NGS test?
NGS is highly accurate for detecting genetic mutations, but results should be correlated with clinical findings.
Who should consider this test?
Individuals with symptoms of PHA1, family history of the disorder, or those seeking genetic counseling for autosomal recessive conditions.
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.

Related Tests

Amyloid Protein Identification Test

₹300,000

CLCNKB Gene Bartter syndrome type 3 NGS Genetic Test

₹20,000

SLC12A7 Gene Bartter syndrome NGS Genetic Test

₹20,000

SLC12A5 Gene Bartter syndrome NGS Genetic Test

₹20,000

SLC12A2 Gene Bartter syndrome NGS Genetic Test

₹20,000

KCNJ1 Gene Bartter syndrome type 2 NGS Genetic Test

₹20,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.