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CEP290 Gene Joubert syndrome type 5 NGS Genetic Test

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CEP290 Gene Joubert syndrome type 5 NGS Genetic Test

Short Name: Joubert Syndrome Type 5 NGS Test

Also known as: CEP290 Gene Test, Joubert Syndrome Type 5 Genetic Test, CEP290 NGS Test

CEP290 Gene Joubert syndrome type 5 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 TestAll Ages🏠 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 CEP290 gene that cause Joubert Syndrome Type 5, enabling accurate diagnosis, prognosis assessment, and informed medical management.

Test Code
1652
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. Inform the healthcare provider about any medications or medical conditions.

Method: Venipuncture or FTA Card Collection

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm. For FTA card, a drop of blood is applied.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. No special aftercare needed.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Schedule a consultation with a healthcare provider to discuss symptoms and family history. Obtain informed consent.
2
During the Test:Sample collection will be performed by a trained professional. The process takes a few minutes.
3
After the Test:Wait for results as per the turnaround time. Follow up with a genetic counselor for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the CEP290 gene that cause Joubert Syndrome Type 5, enabling accurate diagnosis, prognosis assessment, and informed medical management.

How to Prepare

  • Ensure proper identification and labeling of samples
  • Use sterile equipment for blood collection
  • Store FTA card at room temperature

Doctor's Notes

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

"This genetic test is essential for confirming Joubert Syndrome Type 5, enabling appropriate management and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate whether pathogenic mutations in the CEP290 gene are detected. A positive result confirms Joubert Syndrome Type 5, while a negative result may require further testing.
📊

Positive for pathogenic mutation

Confirms diagnosis of Joubert Syndrome Type 5. Genetic counseling recommended.

📊

Negative for pathogenic mutation

Mutations not detected. Consider other genetic tests or clinical evaluation.

📊

Variant of uncertain significance

Further testing and family studies may be needed.

⚠️ When to Consult a Doctor:

If symptoms of Joubert Syndrome are present, or if there is a family history of the disorder, consult a neurologist or geneticist for evaluation and testing.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires interpretation by a geneticist
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising at the blood draw site
  • ●Rare infection risk
  • ●Emotional impact of results

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during sample processing
  • ●Inadequate DNA yield

Compare With Similar Tests

TestCEP290 Gene Joubert syndrome type 5 NGS Genetic Test
ComparisonCEP290 Gene Joubert syndrome type 5 NGS Genetic Test

Frequently Asked Questions

What is CEP290 Gene Joubert Syndrome Type 5?
It is a rare genetic disorder caused by mutations in the CEP290 gene, leading to brain development issues and various symptoms.
What are the symptoms of this syndrome?
Symptoms include hypotonia, abnormal breathing, ataxia, nystagmus, cognitive impairment, developmental delays, and kidney disease.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the CEP290 gene from a blood or DNA sample.
What is the cost of the test?
The test costs INR 20000, including home sample collection.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
Is genetic counseling provided?
Yes, genetic counseling is recommended and often included to help interpret results.
Can the test be done at home?
Yes, we offer free home sample collection across India.
What if the test is negative?
A negative result means no mutations were detected, but clinical evaluation may still be needed.
Is this test covered by insurance?
Coverage varies; check with your insurance provider or government schemes like PMJAY.
Who should take this test?
Individuals with symptoms of Joubert Syndrome or a family history of the disorder.
What samples are required?
Blood, extracted DNA, or a drop of blood on an FTA card.
How accurate is the NGS test?
NGS is highly accurate for detecting genetic mutations, but interpretation by a specialist is essential.
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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