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TCTN1 Gene Joubert syndrome type 13 NGS Genetic Test

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TCTN1 Gene Joubert syndrome type 13 NGS Genetic Test

Short Name: TCTN1 Gene JBTS13 NGS Test

Also known as: JBTS13, TCTN1-related Joubert Syndrome

TCTN1 Gene Joubert syndrome 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.

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

The purpose of the TCTN1 Gene Joubert Syndrome Type 13 NGS Genetic Test is to detect mutations in the TCTN1 gene associated with Joubert Syndrome Type 13. This test confirms the clinical diagnosis, aids in genetic counseling, helps assess recurrence risks in families, and guides personalized management and care plans for affected individuals.

Test Code
1636
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

A genetic counseling session is recommended to discuss family history and draw a pedigree chart. Provide clinical history of the patient going for testing.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood will be drawn from a vein in the arm using a sterile needle. For FTA card samples, a finger prick or heel prick may be used. Ensure proper identification and labeling of samples.

Step 3

Report Delivery

Apply pressure to the collection site to prevent bleeding. Store samples as instructed and transport them to the laboratory promptly. Results will be available in 3 to 4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Understand the test purpose, provide informed consent, and undergo genetic counseling. Share detailed clinical and family history.
2
During the Test:Sample collection as per instructions; minimal discomfort during blood draw. No special procedures required during testing itself.
3
After the Test:Wait for results in 3-4 weeks. Genetic counseling post-test is recommended to discuss findings and next steps.

About This Test

Who Should Get This Test

The purpose of the TCTN1 Gene Joubert Syndrome Type 13 NGS Genetic Test is to detect mutations in the TCTN1 gene associated with Joubert Syndrome Type 13. This test confirms the clinical diagnosis, aids in genetic counseling, helps assess recurrence risks in families, and guides personalized management and care plans for affected individuals.

How to Prepare

  • Use aseptic technique to collect blood or DNA samples
  • Label samples correctly with patient details
  • For blood samples, use EDTA tubes to prevent clotting
  • For FTA cards, allow blood to dry completely before storage
  • Maintain ambient room temperature during transport

Doctor's Notes

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

"Genetic testing for TCTN1 mutations is essential for confirming Joubert Syndrome Type 13, enabling accurate diagnosis, genetic counseling, and tailored management plans for affected individuals and families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per requirement
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Samples not collected in appropriate containers

Understanding Your Results

Results of the TCTN1 Gene Joubert Syndrome Type 13 NGS Genetic Test indicate the presence or absence of pathogenic mutations in the TCTN1 gene. Interpretation should be done by a qualified geneticist or healthcare provider in conjunction with clinical findings.
📊

Pathogenic variant detected

Confirms diagnosis of Joubert Syndrome Type 13 due to TCTN1 mutation; genetic counseling recommended

📊

No pathogenic variant detected

TCTN1 mutations not found; consider other genetic causes or clinical evaluation

📊

Variant of uncertain significance (VUS)

Further testing and clinical correlation needed; re-evaluation may be required as knowledge evolves

⚠️ When to Consult a Doctor:

Consult a doctor or genetic counselor if symptoms such as hypotonia, ataxia, abnormal breathing, or developmental delays are present. After testing, consult to discuss results, implications for family planning, and management options.

Limitations

  • ⚠This test may not detect all types of mutations, such as large deletions or duplications unless specifically designed
  • ⚠Results are based on current knowledge of TCTN1 gene variants; novel variants may be classified as variants of uncertain significance
  • ⚠Negative results do not completely rule out Joubert Syndrome if caused by other genes
  • ⚠Genetic testing alone cannot predict disease severity or clinical outcomes

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Very low risk of infection at collection site
  • ●Emotional impact of genetic results; counseling available for support

Interfering Factors

  • ●Poor sample quality or insufficient DNA
  • ●Contamination during sample collection or processing
  • ●Hemolyzed or degraded blood samples
  • ●Previous blood transfusions within 4 weeks may affect results

Compare With Similar Tests

TestTCTN1 Gene Joubert syndrome type 13 NGS Genetic TestWhole Exome SequencingKaryotype TestOther Joubert Syndrome Gene Panels
ComparisonTCTN1 Gene Joubert syndrome type 13 NGS Genetic TestAnalyzes all genes for a broader diagnosis, but more expensive and time-consumingDetects chromosomal abnormalities but not specific gene mutationsMay cover multiple genes associated with Joubert Syndrome beyond TCTN1

Frequently Asked Questions

What is the TCTN1 Gene Joubert Syndrome Type 13 NGS Genetic Test?
This test uses next-generation sequencing to analyze the TCTN1 gene for mutations causing Joubert Syndrome Type 13, a rare neurological disorder.
Why is this test recommended?
It is recommended for individuals with symptoms of Joubert Syndrome, such as hypotonia, ataxia, abnormal breathing, and developmental delays, to confirm diagnosis and guide management.
What does the test cost?
The test costs INR 20,000 in India, with home sample collection available at no extra charge.
How is the sample collected?
Sample is collected via blood draw or using an FTA card from a finger or heel prick. Home collection is offered across India.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate presence or absence of TCTN1 mutations. Positive results confirm Joubert Syndrome Type 13; negative results may require further testing.
Is genetic counseling provided?
Yes, a genetic counseling session is included before and after testing to discuss implications and family history.
Are there any risks associated with the test?
The test involves a blood draw, which has minimal risks like bruising. Genetic results may have emotional impacts, with counseling available.
Can the test be done for children?
Yes, the test can be performed on individuals of all ages, including infants and children, when symptoms are present.
Is home sample collection available nationwide?
Yes, DNA Labs India offers free home sample collection across many cities in India for this test.
What files are provided with the report?
DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical test report for transparency.
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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