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TCTN3 Gene Joubert syndrome type 18 NGS Genetic Test

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TCTN3 Gene Joubert syndrome type 18 NGS Genetic Test

Short Name: Joubert Syndrome Type 18 Genetic Test

Also known as: TCTN3 Gene Test, Joubert Syndrome Type 18 NGS Test

TCTN3 Gene Joubert syndrome type 18 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)🏠 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 this test is to identify mutations in the TCTN3 gene associated with Joubert Syndrome Type 18, aiding in diagnosis, guiding management, and informing family planning decisions.

Test Code
1641
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 detailed clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with Joubert Syndrome Type 18.

Method: Blood draw

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or use of FTA card with one drop of blood under sterile conditions.

Step 3

Report Delivery

Sample is sent to the laboratory for analysis. Results are typically available in 3 to 4 weeks and delivered online or via email.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session and clinical evaluation are recommended to assess the need for testing and discuss implications.
2
During the Test:Sample collection, processing, and sequencing using NGS technology in a certified laboratory.
3
After the Test:Results interpretation, genetic counseling, and follow-up care planning with healthcare providers.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the TCTN3 gene associated with Joubert Syndrome Type 18, aiding in diagnosis, guiding management, and informing family planning decisions.

How to Prepare

  • Use EDTA tube for blood samples or FTA card for one drop blood
  • Ensure proper labeling with patient details
  • Avoid hemolysis by gentle mixing
  • Store at ambient room temperature if not processed immediately

Doctor's Notes

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

"Early genetic testing for TCTN3 gene mutations is crucial for diagnosing Joubert Syndrome Type 18 and initiating timely interventions to manage symptoms and improve quality of life."

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 samples: Stable at room temperature for 24 hours
Extracted DNA: Stable at 4°C for short-term or frozen for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Expired FTA cards

Understanding Your Results

Genetic test results indicate the presence or absence of pathogenic variants in the TCTN3 gene, which is associated with Joubert Syndrome Type 18. Interpretation should be done by a qualified geneticist.
📊

Pathogenic variant detected

Confirms diagnosis of Joubert Syndrome Type 18; genetic counseling and management planning recommended

📊

No pathogenic variant detected

May not rule out condition if symptoms persist; consider other genetic tests or clinical evaluation

📊

Variant of uncertain significance (VUS)

Further family studies or functional assays may be needed; ongoing monitoring advised

⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if the test result is positive, if symptoms persist despite a negative result, or for guidance on family planning and management options.

Limitations

  • ⚠May not detect all types of mutations, such as deep intronic variants
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not rule out other genetic causes of Joubert Syndrome

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection at puncture site
  • ●Psychological impact of genetic results; counseling provided

Interfering Factors

  • ●Degraded DNA sample
  • ●Contamination during sample collection
  • ●Insufficient sample volume

Compare With Similar Tests

TestTCTN3 Gene Joubert syndrome type 18 NGS Genetic TestJoubert Syndrome Comprehensive PanelTCTN3 Gene Sanger SequencingWhole Exome Sequencing
ComparisonTCTN3 Gene Joubert syndrome type 18 NGS Genetic Test

Frequently Asked Questions

What is TCTN3 Gene Joubert Syndrome Type 18?
It is a rare genetic disorder caused by mutations in the TCTN3 gene, leading to brain development issues and symptoms like abnormal breathing and developmental delays.
What are the common symptoms of Joubert Syndrome Type 18?
Symptoms include abnormal breathing patterns, delayed development, low muscle tone, abnormal eye movements, and potential kidney or liver problems.
How is the TCTN3 Gene NGS Genetic Test performed?
The test uses next-generation sequencing technology to analyze the TCTN3 gene from a blood sample or extracted DNA, detecting pathogenic variants.
What is the cost of the test at DNA Labs India?
The cost is INR 20000, which includes laboratory analysis and result interpretation.
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 receive the test results?
Results are typically available in 3 to 4 weeks and can be accessed online or via email.
Is genetic counseling required before testing?
Yes, genetic counseling is recommended before and after testing to understand implications and interpret results.
What does a positive test result mean?
A positive result confirms the presence of a pathogenic TCTN3 gene mutation, diagnosing Joubert Syndrome Type 18 and guiding management.
Can children undergo this genetic test?
Yes, the test is suitable for all ages, including children, especially if symptoms are present.
Is the test covered by insurance schemes like PMJAY or CGHS?
Coverage depends on the specific scheme and policy; it is advisable to check with the respective provider.
What if the test is negative but symptoms persist?
A negative result may not rule out other genetic causes; further testing or clinical evaluation is recommended.
How accurate is the NGS genetic test for TCTN3?
NGS technology provides high accuracy for detecting mutations, but accuracy depends on sample quality and laboratory standards.
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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