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DNA Labs India

NPHP4 Gene Nephronophthisis type 4 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

NPHP4 Gene Nephronophthisis type 4 NGS Genetic Test

Short Name: NPHP4 Gene Test

Also known as: NPHP4 Gene Analysis, Nephronophthisis Type 4 Genetic Test, NPHP4 NGS Test

NPHP4 Gene Nephronophthisis type 4 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 TestPediatric to Adult🏠 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 the NPHP4 Gene Nephronophthisis Type 4 NGS Genetic Test is to identify mutations in the NPHP4 gene that cause nephronophthisis type 4, enabling accurate diagnosis, informing treatment plans, and facilitating genetic counseling for affected individuals and their families.

Test Code
5470
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

No specific preparation is required. Provide clinical history and undergo genetic counseling as recommended.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm, or a drop of blood may be collected on an FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities unless advised otherwise.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Understand the test purpose, provide informed consent, and share relevant medical and family history with the healthcare provider.
2
During the Test:The test involves a simple blood draw or sample collection, which is quick and minimally invasive.
3
After the Test:Wait for results as per the turnaround time. Discuss findings with a genetic counselor or physician for appropriate next steps.

About This Test

Who Should Get This Test

The purpose of the NPHP4 Gene Nephronophthisis Type 4 NGS Genetic Test is to identify mutations in the NPHP4 gene that cause nephronophthisis type 4, enabling accurate diagnosis, informing treatment plans, and facilitating genetic counseling for affected individuals and their families.

How to Prepare

  • Ensure the patient is relaxed and hydrated
  • Use sterile equipment for blood collection
  • Label the sample correctly with patient details
  • Store the sample at ambient room temperature if using FTA card

Doctor's Notes

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

"This test is essential for confirming NPHP type 4 diagnosis, guiding treatment decisions, and enabling 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 MethodVenipuncture

Sample Stability

Blood samples: Stable for 24 hours at room temperature
Extracted DNA: Stable for several days when stored properly
FTA card samples: Stable for extended periods at room temperature
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed samples
  • Incorrect labeling or missing patient information

Understanding Your Results

Results from the NPHP4 Gene Nephronophthisis Type 4 NGS Genetic Test indicate the presence or absence of mutations in the NPHP4 gene. A positive result confirms a genetic diagnosis of NPHP type 4, while a negative result may require further testing or clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of nephronophthisis type 4. Genetic counseling and management strategies should be implemented.

📊

Negative for pathogenic variant

No mutations detected in the NPHP4 gene. Consider other genetic or non-genetic causes of symptoms.

📊

Variant of uncertain significance (VUS)

A genetic variant was found, but its clinical significance is unknown. Further testing and family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a healthcare professional if you have a family history of nephronophthisis, experience symptoms like increased urination, excessive thirst, or fatigue, or if genetic test results indicate a mutation.

Limitations

  • ⚠May not detect all possible mutations in the NPHP4 gene
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not rule out other genetic causes of nephronophthisis
  • ⚠Turnaround time of 3 to 4 weeks may delay diagnosis

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection or excessive bleeding
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination during collection or processing
  • ●Degraded DNA due to improper storage
  • ●Presence of inhibitors in the sample affecting NGS analysis

Frequently Asked Questions

What is the NPHP4 Gene Nephronophthisis Type 4 NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to detect mutations in the NPHP4 gene, which causes nephronophthisis type 4, a rare kidney disorder.
Why is this test recommended?
It is recommended for individuals with a family history of nephronophthisis or symptoms like increased urination, excessive thirst, and kidney dysfunction to confirm diagnosis.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with home sample collection available across India.
How is the test performed?
The test involves collecting a blood sample or DNA extract, which is then analyzed using NGS technology to identify mutations in the NPHP4 gene.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted sample types.
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?
A positive result confirms a mutation in the NPHP4 gene, indicating nephronophthisis type 4. A negative result means no mutations were detected, but further evaluation may be needed.
Are there any risks associated with the test?
The test has minimal risks, such as minor bruising from blood draw. Genetic results may have psychological implications, so counseling is advised.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
Is the test covered by insurance?
Coverage depends on your insurance plan. It is not typically covered under government schemes like PMJAY or CGHS, but check with your provider.
What should I do after receiving the results?
Consult a healthcare professional or genetic counselor to understand the results, discuss management options, and consider genetic testing for family members.
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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