Skip to main content
DNA Labs India

CEP41 Gene Joubert syndrome type 15 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CEP41 Gene Joubert syndrome type 15 NGS Genetic Test

Short Name: CEP41 Gene Test for Joubert Syndrome

Also known as: CEP41 Gene Mutation Test, Joubert Syndrome Type 15 Genetic Test

CEP41 Gene Joubert syndrome type 15 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results typically available in 3 to 4 weeks after sample receipt.. 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 CEP41 Gene Joubert Syndrome Type 15 NGS Genetic Test is to identify mutations in the CEP41 gene and other associated genes to confirm a diagnosis of Joubert syndrome type 15, guide clinical management, and provide genetic counseling for affected individuals and their families.

Test Code
1633
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results typically available in 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

No specific preparation required. Ensure accurate patient and family history is provided for genetic counseling.

Method: Venipuncture or FTA Card Collection

Step 2

Laboratory Analysis

Blood draw performed by a trained phlebotomist using standard venipuncture or FTA card collection.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store sample as per instructions for stability.

Timeline: Results typically available in 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Obtain informed consent and detailed clinical and family history. Genetic counseling recommended prior to testing.
2
During the Test:Blood sample collected via venipuncture or FTA card; procedure is minimally invasive.
3
After the Test:Monitor for any minor discomfort at puncture site. Await results and follow up with genetic counseling.

About This Test

Who Should Get This Test

The purpose of the CEP41 Gene Joubert Syndrome Type 15 NGS Genetic Test is to identify mutations in the CEP41 gene and other associated genes to confirm a diagnosis of Joubert syndrome type 15, guide clinical management, and provide genetic counseling for affected individuals and their families.

How to Prepare

  • Use sterile equipment for blood collection
  • Label samples correctly with patient details
  • Transport samples at ambient room temperature within specified time

Doctor's Notes

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

"This test is crucial for confirming diagnosis in suspected cases of Joubert syndrome and guiding family planning and management strategies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable at room temperature for up to 24 hours
Extracted DNA stable at 2-8°C for several days
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Incorrect labeling or insufficient sample
  • Sample contamination

Understanding Your Results

Results from the CEP41 Gene Joubert Syndrome Type 15 NGS Genetic Test should be interpreted by a qualified geneticist or healthcare provider. Positive findings confirm genetic mutations associated with the condition, while negative results may require further testing or clinical correlation.
Positive result: Pathogenic variants in CEP41 gene confirm diagnosis; recommend genetic counseling and family screening.
Negative result: No variants detected; consider other genetic causes or clinical reassessment.
Variant of uncertain significance: Require additional family studies or functional analysis.
Report should include variant classification and recommendations for management.
⚠️ When to Consult a Doctor:

Consult a doctor if the test results are positive, if symptoms worsen, or for genetic counseling and family planning advice.

Limitations

  • ⚠May not detect all possible genetic variants or deep intronic mutations
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Does not replace clinical evaluation or imaging studies

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as slight pain or bruising
  • ●No significant health risks from the test itself

Interfering Factors

  • ●Hemolyzed or improperly stored samples
  • ●Contaminated DNA extraction
  • ●Insufficient sample volume

Compare With Similar Tests

TestCEP41 Gene Joubert syndrome type 15 NGS Genetic TestSingle Gene Sequencing for CEP41Whole Exome SequencingMicroarray AnalysisCarrier Testing for Joubert Syndrome
ComparisonCEP41 Gene Joubert syndrome type 15 NGS Genetic Test

Frequently Asked Questions

What is the CEP41 Gene Joubert Syndrome Type 15 NGS Genetic Test?
This is a genetic test using Next-Generation Sequencing to analyze the CEP41 gene and other related genes to diagnose Joubert syndrome type 15, a rare neurological disorder.
What are the symptoms of Joubert syndrome type 15?
Symptoms include hypotonia, intellectual disability, abnormal eye movements, breathing abnormalities, and the molar tooth sign on brain imaging.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to detect mutations in the CEP41 gene and associated genes.
What is the cost of the test in India?
The test costs INR 20000.0 at DNA Labs India, with possible variations in other labs.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample receipt.
Is genetic testing covered by insurance?
Genetic testing is not always covered by insurance; patients should check with their provider for coverage options.
What should I do if the test result is positive?
Consult a geneticist or neurologist for confirmation, management advice, and genetic counseling for family planning.
Can the test detect all mutations causing Joubert syndrome?
NGS analyzes multiple genes but may not detect all possible variants; interpretation requires expert review.
Is fasting required before the test?
No, fasting is not required for this blood test.
Who should consider this test?
Individuals with symptoms of Joubert syndrome, family history of the disorder, or unexplained neurological issues.
What is the molar tooth sign?
It is a distinctive brain malformation seen on MRI, characteristic of Joubert syndrome, indicating cerebellar and brainstem abnormalities.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.