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DNA Labs India

NPHS1 Gene Nephrotic syndrome type 2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

NPHS1 Gene Nephrotic syndrome type 2 NGS Genetic Test

Short Name: NPHS1 Gene Test

Also known as: NPHS1 Gene Mutation Test, Nephrotic Syndrome Genetic Test, Nephrin Gene Test

NPHS1 Gene Nephrotic syndrome type 2 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

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify mutations in the NPHS1 gene that cause nephrotic syndrome type 2, enabling accurate diagnosis, personalized treatment, and genetic counseling for affected individuals and their families.

Test Code
2630
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 of the patient and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger-prick; no special procedure required.

Step 3

Report Delivery

Sample sent to lab for NGS analysis; results available in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Simple blood draw; no special precautions needed.
3
After the Test:Results will be provided online; follow-up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the NPHS1 gene that cause nephrotic syndrome type 2, enabling accurate diagnosis, personalized treatment, and genetic counseling for affected individuals and their families.

How to Prepare

  • Use EDTA tube for blood samples or FTA card for one drop blood.
  • Ensure sample is stored at ambient room temperature.
  • Label samples correctly with patient details.

Doctor's Notes

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

"Genetic testing for NPHS1 mutations is crucial for confirming nephrotic syndrome type 2, guiding treatment, and family counseling."

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 DNA
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Room TemperatureUp to 7 days
RefrigeratedUp to 30 days
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling or container

Understanding Your Results

Results indicate the presence or absence of mutations in the NPHS1 gene. A positive result confirms a genetic cause for nephrotic syndrome type 2.
📊

Positive for pathogenic variant

Confirms diagnosis of nephrotic syndrome type 2 due to NPHS1 gene mutation. Genetic counseling recommended.

📊

Negative for pathogenic variant

No mutations detected in NPHS1 gene; consider other genetic or non-genetic causes.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms like persistent swelling, foamy urine, or have a family history of nephrotic syndrome. After testing, consult for result interpretation and treatment planning.

Limitations

  • ⚠This test may not detect all types of mutations, such as large deletions or duplications.
  • ⚠Results require interpretation by a genetic specialist.
  • ⚠Does not replace clinical evaluation or kidney biopsy in some cases.

Risks & Considerations

  • ●Minimal risks associated with blood draw, such as bruising or infection.
  • ●No significant genetic risks from the test itself.

Frequently Asked Questions

What is the NPHS1 Gene Nephrotic Syndrome Type 2 NGS Genetic Test?
This test uses Next-Generation Sequencing (NGS) to analyze the NPHS1 gene for mutations that cause nephrotic syndrome type 2, a genetic kidney disorder.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed using NGS technology to sequence the NPHS1 gene and identify mutations.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the symptoms of nephrotic syndrome type 2?
Symptoms include swelling in legs, ankles, feet, and face, weight gain, fatigue, loss of appetite, foamy urine, high cholesterol, and increased infection risk.
How is nephrotic syndrome type 2 diagnosed?
Diagnosis involves physical exams, blood tests, urine tests, kidney biopsy, and genetic testing like the NPHS1 NGS test.
What does a positive result mean?
A positive result confirms a mutation in the NPHS1 gene, indicating a genetic cause for nephrotic syndrome type 2, which can guide treatment and genetic counseling.
Is genetic counseling recommended?
Yes, genetic counseling is advised before and after testing to understand implications, family risks, and management options.
Can this test be used for prenatal diagnosis?
Yes, in some cases, it can be used for prenatal diagnosis if there is a known family history, but consultation with a genetic specialist is necessary.
What are the risks of the test?
The test involves minimal risks from blood draw, such as bruising; there are no significant genetic risks from the analysis itself.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting gene mutations, but accuracy depends on sample quality and interpretation by experts.
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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