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TCTN2 Gene Joubert syndrome type 24 NGS Genetic Test

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TCTN2 Gene Joubert syndrome type 24 NGS Genetic Test

Short Name: TCTN2 Joubert Syndrome Type 24 Test

Also known as: Joubert syndrome 24 genetic test, TCTN2 gene test, Joubert syndrome NGS test

TCTN2 Gene Joubert syndrome type 24 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 Test🏠 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 Joubert syndrome type 24 by identifying mutations in the TCTN2 gene using Next-Generation Sequencing for accurate genetic confirmation and informed medical management.

Test Code
1647
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

Genetic counseling session recommended to understand test implications and draw a family pedigree chart.

Method: Blood draw

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist from a vein in the arm.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding and avoid strenuous activity for a short period.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Understand the test procedure, benefits, and limitations. Genetic counseling may be beneficial for decision-making.
2
During the Test:A blood sample is drawn from a vein in the arm, which is then processed for NGS analysis in the laboratory.
3
After the Test:No special precautions are needed after the blood draw. Follow up with your healthcare provider for results and interpretation.

About This Test

Who Should Get This Test

To diagnose Joubert syndrome type 24 by identifying mutations in the TCTN2 gene using Next-Generation Sequencing for accurate genetic confirmation and informed medical management.

How to Prepare

  • Fasting not required
  • Provide clinical history and family details
  • Ensure proper sample labeling

Doctor's Notes

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

"Genetic testing is crucial for confirming diagnosis and guiding family planning in Joubert syndrome."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood sample stable at room temperature for 24 hours
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of mutations in the TCTN2 gene associated with Joubert syndrome type 24.
📊

Low risk for Joubert syndrome type 24, but clinical correlation needed for other causes.

📊

Confirms diagnosis of Joubert syndrome type 24. Genetic counseling and family screening recommended.

⚠️ When to Consult a Doctor:

If you or your child experience symptoms like abnormal breathing, low muscle tone, or developmental delays, consult a neurologist or geneticist promptly.

Limitations

  • ⚠Only detects mutations in TCTN2 gene
  • ⚠May not identify all genetic variants
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minor bruising or soreness at the puncture site
  • ●Rare risk of infection or allergic reaction

Interfering Factors

  • ●Sample degradation
  • ●Contamination
  • ●Insufficient DNA quantity

Frequently Asked Questions

What is the TCTN2 Gene Joubert Syndrome Type 24 NGS Genetic Test?
This is a genetic test that uses Next-Generation Sequencing to detect mutations in the TCTN2 gene, which causes Joubert syndrome type 24, a rare neurological disorder.
Who should get this test?
Individuals with symptoms of Joubert syndrome, such as abnormal breathing, low muscle tone, or developmental delays, or those with a family history of the condition.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to identify genetic variants in the TCTN2 gene.
What are the symptoms of Joubert syndrome type 24?
Symptoms include abnormal breathing patterns, low muscle tone, abnormal eye movements, developmental delays, and cognitive impairment, with severity varying among individuals.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, which includes consultations and follow-up appointments.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What do the results mean?
Results indicate whether pathogenic mutations in the TCTN2 gene are detected. A positive result confirms Joubert syndrome type 24, while a negative result suggests lower risk but requires clinical correlation.
Are there any risks associated with the test?
The test involves a standard blood draw, which may cause minor bruising or infection risk. No major risks are associated with the genetic analysis itself.
Can the test detect all cases of Joubert syndrome?
No, this test specifically targets the TCTN2 gene. Other genes can also cause Joubert syndrome, so a negative result does not rule out the condition entirely.
What should I do if I test positive?
Consult a healthcare provider for genetic counseling, management plans, and to discuss family screening options.
Is genetic counseling provided?
Yes, DNA Labs India recommends a genetic counseling session before testing to draw a pedigree chart and understand implications, which is included in the cost.
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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