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NPHS1 Gene Nephrosis, Finnish type NGS Genetic Test

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NPHS1 Gene Nephrosis, Finnish type NGS Genetic Test

Short Name: NPHS1 Nephrosis Genetic Test

Also known as: Finnish type congenital nephrosis, Congenital nephrotic syndrome of Finnish type

NPHS1 Gene Nephrosis, Finnish type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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, typically diagnosed in infants🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To detect pathogenic mutations in the NPHS1 gene for diagnosis of Finnish type congenital nephrosis.

Test Code
2622
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)
Step 1

Sample Collection

Clinical history review and genetic counseling session to draw a pedigree chart.

Method: Blood draw or FTA card preparation

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or preparation of FTA card with one drop of blood.

Step 3

Report Delivery

Sample is transported to the laboratory under ambient conditions for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent are required prior to testing.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Report generation and consultation with a healthcare professional for result interpretation.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the NPHS1 gene for diagnosis of Finnish type congenital nephrosis.

How to Prepare

  • Ensure proper sample handling and labeling
  • Use sterile equipment for blood draw
  • Follow FTA card instructions if applicable

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"This test is crucial for early diagnosis of NPHS1 gene nephrosis, enabling timely management and genetic counseling for affected families."

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 preparation

Sample Stability

Blood samples stable at room temperature for up to 24 hours
FTA cards stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the NPHS1 gene, aiding in the diagnosis of Finnish type congenital nephrosis.
Positive result: Pathogenic mutation detected, confirming diagnosis of NPHS1 gene nephrosis.
Negative result: No pathogenic mutation found, but clinical correlation is needed; other causes may be considered.
Variant of uncertain significance: Further testing or family studies may be required for clarification.
⚠️ When to Consult a Doctor:

If symptoms of nephrosis are present, such as swelling or proteinuria, or if there is a family history of the condition.

Limitations

  • ⚠May not detect all possible mutations
  • ⚠Requires correlation with clinical findings
  • ⚠Genetic counseling is essential for interpretation

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic test results

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is the NPHS1 Gene Nephrosis NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the NPHS1 gene, which causes Finnish type congenital nephrosis, a rare kidney disorder.
What is the cost of the test?
The test costs INR 20,000, which includes home sample collection across India.
What are the symptoms of NPHS1 gene nephrosis?
Symptoms typically appear in infancy and include difficulty gaining weight, swelling in the legs, abdomen, and face, and frothy urine due to excess protein.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed using next-generation sequencing technology to identify mutations in the NPHS1 gene.
What sample is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across numerous cities in India.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the NPHS1 gene, confirming the diagnosis of Finnish type congenital nephrosis.
What if the test is negative?
A negative result means no pathogenic mutation was found, but clinical correlation is necessary as other conditions may cause similar symptoms.
Is genetic counseling provided?
Yes, a genetic counseling session is recommended before and after testing to discuss implications and family planning.
Can this test be done for adults?
Yes, the test can be performed at any age, but it is most commonly indicated for infants with symptoms or family history.
How accurate is the NGS technology?
NGS technology is highly accurate for detecting genetic mutations, but interpretation should be done by qualified professionals in conjunction with clinical findings.
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

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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.

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✓ 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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