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TTC21B Gene Nephronophthisis type 12 NGS Genetic Test

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TTC21B Gene Nephronophthisis type 12 NGS Genetic Test

Short Name: TTC21B Nephronophthisis Type 12 NGS Test

TTC21B Gene Nephronophthisis type 12 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 TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the TTC21B gene for diagnosis of nephronophthisis type 12.

Test Code
5462
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

Clinical history and genetic counseling recommended.

Step 2

Laboratory Analysis

Standard blood draw or DNA extraction.

Step 3

Report Delivery

Sample sent to lab for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:Blood sample collection for DNA extraction.
3
After the Test:Results available in 3-4 weeks; consult with geneticist or nephrologist.

About This Test

Who Should Get This Test

To identify mutations in the TTC21B gene for diagnosis of nephronophthisis type 12.

How to Prepare

  • Collect blood sample in appropriate tube
  • For FTA card, one drop of blood

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

Understanding Your Results

Results indicate presence or absence of mutations in the TTC21B gene.
📊

Pathogenic variant detected

Diagnosis of nephronophthisis type 12 likely

📊

No pathogenic variant detected

Nephronophthisis type 12 unlikely based on this gene

⚠️ When to Consult a Doctor:

If symptoms of kidney dysfunction are present or family history of nephronophthisis.

Risks & Considerations

  • ●Bruising at puncture site
  • ●Infection risk (rare)

Frequently Asked Questions

What is nephronophthisis type 12?
Nephronophthisis type 12 is a rare genetic disorder that affects the kidneys, caused by mutations in the TTC21B gene, leading to impaired cilia function and kidney damage.
What causes nephronophthisis type 12?
It is caused by mutations in the TTC21B gene, which provides instructions for a protein important for cilia function in the kidneys.
What are the symptoms of nephronophthisis type 12?
Symptoms include increased urination, excessive thirst, weakness, fatigue, shortness of breath, anemia, high blood pressure, swelling in legs and ankles, decreased urine output, and abdominal pain.
How is nephronophthisis type 12 diagnosed?
Diagnosis involves genetic testing to identify TTC21B gene mutations, along with urinalysis, blood tests, imaging, and biopsy to evaluate kidney function.
What is the TTC21B gene?
The TTC21B gene provides instructions for making a protein essential for cilia function, which helps move fluids in the kidneys.
What is NGS genetic testing?
NGS (Next Generation Sequencing) is a technology that analyzes DNA sequences to identify genetic mutations, used here to test the TTC21B gene.
How much does the TTC21B Gene Nephronophthisis type 12 NGS Genetic Test cost?
The test costs INR 20000 at DNA Labs India.
Is home sample collection available for this test?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks.
What should I do before getting tested?
Before testing, provide clinical history and undergo genetic counseling to draw a family pedigree chart.
Are there any risks associated with the test?
Risks are minimal, such as bruising at the blood draw site or rare infection risk.
What if the test results are positive?
If pathogenic variants are detected, consult a healthcare professional for diagnosis, management, and potential treatment options.
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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