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NPHS2 Gene Nephrotic syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

NPHS2 Gene Nephrotic syndrome NGS Genetic Test

Short Name: NPHS2 Gene Test

Also known as: NPHS2 Mutation Analysis, Podocin Gene Test, Nephrotic Syndrome Genetic Test

NPHS2 Gene Nephrotic syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing for confirmation 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.

Next-Generation Sequencing (NGS)🏠 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 NPHS2 gene that cause nephrotic syndrome, aiding in diagnosis, treatment planning, and genetic counseling.

Test Code
2624
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
Next-Generation Sequencing (NGS), Sanger Sequencing for confirmation
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree chart during genetic counseling.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

A blood sample is drawn via venipuncture or a finger-prick for FTA card collection. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a family pedigree chart.
2
During the Test:Sample collection via blood draw or FTA card; analysis in a certified laboratory.
3
After the Test:Report delivery in 3-4 weeks; follow-up consultation recommended for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the NPHS2 gene that cause nephrotic syndrome, aiding in diagnosis, treatment planning, and genetic counseling.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for sample collection
  • Label samples correctly with patient details
  • Transport samples at ambient temperature as per guidelines

Doctor's Notes

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

"This NGS test is essential for identifying genetic causes of nephrotic syndrome, enabling targeted 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 Volume3-5 mL
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood in EDTA tube
FTA card sample
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Incorrectly labeled or unlabeled samples
  • Insufficient sample volume
  • Samples stored improperly

Understanding Your Results

Results indicate the presence or absence of mutations in the NPHS2 gene. Positive results suggest a genetic cause for nephrotic syndrome, while negative results may require further testing.
📊

Pathogenic mutation detected

Confirms genetic nephrotic syndrome; consider family screening and targeted therapy.

📊

Variant of uncertain significance (VUS)

Further research or testing needed; clinical correlation advised.

📊

No pathogenic mutation detected

NPHS2 gene not implicated; explore other causes of nephrotic syndrome.

⚠️ When to Consult a Doctor:

Consult a nephrologist or geneticist if symptoms persist, results are positive, or for family planning advice.

Limitations

  • ⚠May not detect all possible genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings
  • ⚠Limited to NPHS2 gene; other genetic causes may exist

Risks & Considerations

  • ●Minor bruising or discomfort at the puncture site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination or degradation
  • ●Insufficient DNA quantity
  • ●Recent blood transfusions
  • ●Hemolyzed or lipemic samples

Frequently Asked Questions

What is the NPHS2 Gene Nephrotic Syndrome NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the NPHS2 gene, which can cause nephrotic syndrome, a kidney disorder.
Why is this test recommended?
It is recommended for individuals with symptoms of nephrotic syndrome, family history of kidney disorders, or to confirm a genetic diagnosis for treatment planning.
How is the test performed?
A blood or saliva sample is collected and analyzed in a laboratory using NGS technology to identify genetic mutations.
What is the cost of the test?
The test costs INR 20000, which includes sample collection, analysis, and report delivery.
Is home sample collection available?
Yes, free home sample collection is available across many cities in India for online bookings.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if mutations are present in the NPHS2 gene. Positive results suggest a genetic cause for nephrotic syndrome, while negative results may require further investigation.
Are there any risks associated with the test?
The test involves minimal risks, such as slight bruising from blood draw. Genetic results may have emotional implications, so counseling is provided.
Can this test diagnose all cases of nephrotic syndrome?
No, it specifically detects NPHS2 gene mutations. Other genetic or non-genetic causes may require different tests.
Is genetic counseling included?
Yes, a genetic counseling session is recommended before and after the test to discuss implications and results.
What should I do if I test positive?
Consult a nephrologist or geneticist for personalized treatment, family screening, and management strategies.
Is the test covered by insurance?
Coverage varies by insurance provider. It is advisable to check with your insurer for details on genetic testing coverage.
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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