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WDR19 Gene Nephronophthisis type 13 NGS Genetic Test

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WDR19 Gene Nephronophthisis type 13 NGS Genetic Test

WDR19 Gene Nephronophthisis type 13 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.

Next Generation Sequencing (NGS)Pediatric and Adolescent🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To detect pathogenic mutations in the WDR19 gene for the diagnosis of Nephronophthisis type 13, a rare genetic kidney disorder.

Test Code
5465
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 a genetic counseling session to draw a pedigree chart of family members affected with nephronophthisis.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist using standard venipuncture or FTA card method.

Step 3

Report Delivery

The sample will be labeled and transported to the laboratory under appropriate conditions for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling to draw a pedigree chart of family members affected with nephronophthisis.
2
During the Test:A blood sample will be collected for DNA extraction and analysis using NGS technology.
3
After the Test:Results will be available in 3 to 4 weeks and can be accessed online or via email/WhatsApp.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the WDR19 gene for the diagnosis of Nephronophthisis type 13, a rare genetic kidney disorder.

How to Prepare

  • Blood or extracted DNA sample is acceptable
  • One drop of blood on FTA card can be used
  • Ensure sample is not hemolyzed

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Stable at room temperature for 24 hours
Long-term storage at -20°C for extracted DNA
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the WDR19 gene, which are associated with Nephronophthisis type 13.
📊

Positive

Pathogenic variant detected in the WDR19 gene, consistent with a diagnosis of Nephronophthisis type 13. Genetic counseling is recommended.

📊

Negative

No pathogenic variants detected in the WDR19 gene. Clinical correlation is advised if symptoms persist.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was identified but its clinical significance is unknown. Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If symptoms such as frequent urination, increased thirst, or swelling occur, or if there is a family history of nephronophthisis or kidney failure.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality

Frequently Asked Questions

What is WDR19 Gene Nephronophthisis type 13?
It is a rare genetic disorder caused by mutations in the WDR19 gene, leading to progressive kidney failure, typically starting in childhood or adolescence.
What are the symptoms of Nephronophthisis type 13?
Symptoms include frequent urination, increased thirst, decreased appetite, vomiting, weakness, fatigue, shortness of breath, high blood pressure, anemia, and swelling in the legs and feet.
How is Nephronophthisis type 13 diagnosed?
Diagnosis is confirmed through genetic testing, specifically the NGS Genetic Test for the WDR19 gene, along with blood and urine tests to assess kidney function.
What is the NGS Genetic Test for WDR19?
It is a Next Generation Sequencing test that analyzes DNA to detect mutations in the WDR19 gene with high accuracy, even for rare variants.
What is the cost of the WDR19 Gene Nephronophthisis type 13 NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
How accurate is the NGS Genetic Test?
The test is highly accurate and can detect even very rare mutations in the WDR19 gene, providing reliable diagnostic information.
Who should consider getting tested for Nephronophthisis type 13?
Individuals with symptoms of kidney dysfunction, a family history of nephronophthisis, or those diagnosed with chronic kidney disease of unknown cause should consider testing.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the WDR19 gene, confirming a diagnosis of Nephronophthisis type 13. Genetic counseling is recommended for management and family planning.
Is genetic counseling required before testing?
Yes, a genetic counseling session is recommended to draw a pedigree chart, discuss implications, and provide support before and after testing.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, but there may be psychological impacts from the results. Genetic counseling helps mitigate these risks.
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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✓ 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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