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DNA Labs India

NEK8 Gene Nephronophthisis type 9 NGS Genetic Test

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NEK8 Gene Nephronophthisis type 9 NGS Genetic Test

Also known as: NPHP9, NEK8-related nephronophthisis

NEK8 Gene Nephronophthisis type 9 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) 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 Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the NEK8 Gene Nephronophthisis Type 9 NGS Genetic Test is to diagnose NPHP9 by detecting mutations in the NEK8 gene, guiding treatment decisions and family planning.

Test Code
2621
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 (Next Generation Sequencing)
Step 1

Sample Collection

Provide clinical history of the patient and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Blood Draw or Saliva Collection

Step 2

Laboratory Analysis

Blood draw or saliva collection following standard procedures.

Step 3

Report Delivery

Sample is sent to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are recommended before testing.
2
During the Test:Sample collection via blood draw or saliva.
3
After the Test:Results are delivered in 3 to 4 weeks via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of the NEK8 Gene Nephronophthisis Type 9 NGS Genetic Test is to diagnose NPHP9 by detecting mutations in the NEK8 gene, guiding treatment decisions and family planning.

How to Prepare

  • Ensure proper sample labeling
  • Follow aseptic techniques
  • Store samples at ambient room temperature

Doctor's Notes

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

"Early diagnosis through genetic testing can help manage symptoms and prevent complications like end-stage renal disease in NPHP9."

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 Saliva Collection

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the NEK8 gene associated with NPHP9.
Positive: Pathogenic variant detected, confirming diagnosis
Negative: No pathogenic variants detected
Variant of uncertain significance: Further testing or clinical correlation needed
⚠️ When to Consult a Doctor:

If symptoms of NPHP9 persist or there is a family history of kidney disorders, consult a healthcare provider for genetic testing and management.

Limitations

  • ⚠May not detect all genetic variants or mutations in non-coding regions

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection

Interfering Factors

  • ●Sample quality or contamination may affect results

Frequently Asked Questions

What is Nephronophthisis type 9 (NPHP9)?
NPHP9 is a rare genetic disorder caused by mutations in the NEK8 gene, leading to kidney dysfunction and potentially end-stage renal disease.
What are the symptoms of NPHP9?
Symptoms include excessive urination, increased thirst, fatigue, weakness, shortness of breath, anemia, high blood pressure, swelling in legs or feet, slow growth, and delayed puberty.
How is NPHP9 diagnosed?
Diagnosis is through genetic testing, specifically NGS of the NEK8 gene, which analyzes DNA for mutations associated with NPHP9.
What sample is required for the NEK8 gene test?
The test can be performed on 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.
What is the cost of the NEK8 gene NGS test in India?
The cost is approximately INR 20,000, which may vary by laboratory and includes home sample collection.
Is genetic testing for NPHP9 covered by insurance?
Genetic testing may not be covered by insurance; patients should check with their provider before testing.
What are the risks of the test?
Risks are minimal, primarily related to blood draw, such as bruising or infection.
Can NPHP9 be treated?
While there is no cure, early diagnosis helps manage symptoms and prevent complications like end-stage renal disease through dialysis or transplant.
Why is genetic counseling recommended?
Genetic counseling helps draw a pedigree chart of affected family members and provides guidance on test implications.
What files are provided with the test report?
DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical test report for transparency.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
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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