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NPHP3 Gene Nephronophthisis type 3 NGS Genetic Test

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NPHP3 Gene Nephronophthisis type 3 NGS Genetic Test

Short Name: NPHP3 NGS Test

Also known as: NPHP3 gene test, Nephronophthisis type 3 genetic test, NPHP3 NGS analysis

NPHP3 Gene Nephronophthisis type 3 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 from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric and Adolescent🏠 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

To diagnose Nephronophthisis type 3 by detecting pathogenic mutations in the NPHP3 gene using next-generation sequencing, enabling early intervention and genetic counseling.

Test Code
5472
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling session recommended to discuss test implications and draw a pedigree chart of family members.

Method: Venipuncture or FTA card spotting

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card; procedure is minimally invasive.

Step 3

Report Delivery

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

Timeline: 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:Genetic counseling to discuss benefits, risks, and implications; informed consent required.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Report generation with clinical interpretation; follow-up counseling recommended.

About This Test

Who Should Get This Test

To diagnose Nephronophthisis type 3 by detecting pathogenic mutations in the NPHP3 gene using next-generation sequencing, enabling early intervention and genetic counseling.

How to Prepare

  • No fasting required
  • Provide clinical history and family pedigree
  • Ensure sample is labeled correctly

Doctor's Notes

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

"Early genetic testing for NPHP3 is crucial for guiding treatment decisions and family planning in affected families."

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
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spotting

Sample Stability

Blood: Stable for 48 hours at room temperature
Extracted DNA: Stable for years if stored at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect sample type

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the NPHP3 gene, aiding in the diagnosis of Nephronophthisis type 3.
📊

Positive for pathogenic variant

Confirms diagnosis of NPHP3; genetic counseling and nephrology referral recommended.

📊

Negative for pathogenic variant

No mutations detected in NPHP3 gene; clinical correlation and further testing may be needed.

📊

Variant of uncertain significance (VUS)

Further family studies or functional analysis required; consult geneticist for guidance.

⚠️ When to Consult a Doctor:

If symptoms such as excessive thirst, frequent UTIs, or high blood pressure persist, or if there is a family history of kidney disorders, consult a nephrologist or geneticist.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results may include variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising)
  • ●Psychological impact of genetic results
  • ●Potential for incidental findings

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolyzed blood samples

Compare With Similar Tests

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ComparisonNPHP3 Gene Nephronophthisis type 3 NGS Genetic Test

Frequently Asked Questions

What is the NPHP3 Gene Nephronophthisis type 3 NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the NPHP3 gene, which causes Nephronophthisis type 3, a rare kidney disorder.
Who should consider this test?
Individuals with symptoms like excessive thirst, frequent UTIs, or high blood pressure, or those with a family history of nephronophthisis.
What is the cost of the test?
The test costs INR 20000 in India, with free home sample collection available.
How is the test performed?
A blood sample or DNA is collected and analyzed using NGS technology to identify mutations in the NPHP3 gene.
Is fasting required before the test?
No, fasting is not required for this genetic test.
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 pathogenic variants are present in the NPHP3 gene, aiding in diagnosis and management.
Is genetic counseling provided?
Yes, genetic counseling is recommended before and after the test to discuss implications and results.
Can this test be done at home?
Yes, free home sample collection is available for online bookings across India.
What are the risks of the test?
Risks are minimal, mainly related to blood draw, but psychological impact of results should be considered.
Is the test covered by insurance?
Coverage varies; it is not typically covered under government schemes like PMJAY, but check with private insurers.
Why choose DNA Labs India for this test?
DNA Labs India provides transparent reporting with raw data, FASTQ, and VCF files, along with accredited testing and home collection services.
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.

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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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