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CSPP1 Gene Joubert syndrome type 21 NGS Genetic Test

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CSPP1 Gene Joubert syndrome type 21 NGS Genetic Test

Short Name: CSPP1 Joubert Syndrome Type 21 Test

Also known as: Joubert Syndrome Type 21, JBTS21

CSPP1 Gene Joubert syndrome type 21 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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 this test is to diagnose Joubert Syndrome Type 21 by identifying mutations in the CSPP1 gene using next-generation sequencing (NGS). It aids in confirming the condition, understanding genetic risks, and supporting clinical decision-making.

Test Code
1639
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and genetic counseling as needed.

Method: Blood draw

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture or using an FTA card for a drop of blood.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a healthcare provider for genetic counseling and to discuss the test's implications.
2
During the Test:Blood sample collection is quick and minimally invasive.
3
After the Test:Wait for report delivery in 3-4 weeks. Follow up with doctor for result discussion.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Joubert Syndrome Type 21 by identifying mutations in the CSPP1 gene using next-generation sequencing (NGS). It aids in confirming the condition, understanding genetic risks, and supporting clinical decision-making.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile equipment
  • Label samples correctly
  • Transport samples at ambient temperature

Doctor's Notes

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

"Genetic testing for Joubert Syndrome Type 21 is vital for accurate diagnosis, genetic counseling, and informing family planning decisions."

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
Extracted DNA
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient sample volume
  • Incorrect labeling or documentation

Understanding Your Results

Results indicate the presence or absence of mutations in the CSPP1 gene. A positive result confirms genetic basis for Joubert Syndrome Type 21, while a negative result may require further testing or clinical evaluation.
📊

Positive for CSPP1 mutation

Confirms diagnosis of Joubert Syndrome Type 21. Genetic counseling recommended.

📊

Negative for CSPP1 mutation

No mutation detected in CSPP1 gene. Consider other genetic causes or clinical assessment.

⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if symptoms suggestive of Joubert syndrome are present, or for interpretation of test results and family planning advice.

Limitations

  • ⚠Test may not detect all genetic variants or mosaicism
  • ⚠Results require correlation with clinical findings and family history

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection at puncture site

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Incorrect sample collection or handling

Compare With Similar Tests

TestCSPP1 Gene Joubert syndrome type 21 NGS Genetic TestMRI BrainOther Joubert syndrome gene panels
ComparisonCSPP1 Gene Joubert syndrome type 21 NGS Genetic TestUsed to detect structural abnormalities like molar tooth sign, but does not provide genetic confirmation.May test multiple genes associated with Joubert syndrome, while this test focuses on CSPP1 specifically.

Frequently Asked Questions

What is Joubert Syndrome Type 21?
It is a rare genetic disorder caused by mutations in the CSPP1 gene, leading to brain development issues and symptoms like abnormal breathing and eye movements.
What is the CSPP1 gene?
The CSPP1 gene provides instructions for making a protein involved in normal brain development and function.
What are the common symptoms of Joubert Syndrome Type 21?
Symptoms include abnormal breathing patterns, abnormal eye movements, cerebellar vermis hypoplasia, delayed motor skills, intellectual disability, low muscle tone, and seizures.
How is Joubert Syndrome Type 21 diagnosed?
Diagnosis involves clinical evaluation, brain MRI to detect the molar tooth sign, and genetic testing like NGS to identify CSPP1 mutations.
What does the NGS Genetic Test involve?
It uses next-generation sequencing to detect mutations in the CSPP1 gene from a blood or DNA sample.
What is the cost of this test at DNA Labs India?
The test costs INR 20000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
What is the turnaround time for results?
Results are typically delivered in 3 to 4 weeks.
Is fasting required before the test?
No, fasting is not required for this test.
What are the risks of the test?
Risks are minimal, such as slight bruising from blood draw.
Is genetic testing covered by insurance in India?
Coverage varies by insurance provider; it is not typically covered under government schemes. Check with your insurer.
How should I prepare for the test?
No special preparation is needed, but provide clinical history and consider genetic counseling.
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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