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CPLANE1 Gene Joubert syndrome type 17 NGS Genetic Test

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CPLANE1 Gene Joubert syndrome type 17 NGS Genetic Test

Short Name: CPLANE1 Joubert Syndrome Type 17 NGS Test

Also known as: CPLANE1 Gene Joubert Syndrome Genetic Test, Joubert Syndrome Type 17 Genetic Test

CPLANE1 Gene Joubert syndrome type 17 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the CPLANE1 Gene Joubert Syndrome Type 17 NGS Genetic Test is to identify mutations in the CPLANE1 gene that cause Joubert Syndrome type 17, aiding in definitive diagnosis, family planning, and personalized management.

Test Code
1638
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 clinical history, family history, and implications of the test. Provide informed consent.

Method: Venipuncture for blood sample

Step 2

Laboratory Analysis

A blood sample will be drawn via venipuncture from a vein in the arm. Alternatively, a saliva sample or blood drop on FTA card may be used.

Step 3

Report Delivery

The sample is processed and analyzed using NGS technology. Results are reviewed by geneticists and reported to the patient and physician.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling, clinical history review, and informed consent.
2
During the Test:Sample collection via blood draw.
3
After the Test:Wait for results and follow-up with genetic counselor.

About This Test

Who Should Get This Test

The purpose of the CPLANE1 Gene Joubert Syndrome Type 17 NGS Genetic Test is to identify mutations in the CPLANE1 gene that cause Joubert Syndrome type 17, aiding in definitive diagnosis, family planning, and personalized management.

How to Prepare

  • Ensure proper identification and consent
  • Avoid hemolysis during blood collection
  • Label sample correctly with patient details

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect sample labeling

Understanding Your Results

Results should be interpreted by a clinical geneticist or healthcare provider. A positive result indicates the presence of pathogenic variants in the CPLANE1 gene, confirming Joubert Syndrome type 17.
Positive result: Pathogenic variants detected, diagnosis confirmed
Negative result: No pathogenic variants detected, but clinical correlation is needed
Variant of uncertain significance: Further testing or family studies may be required
⚠️ When to Consult a Doctor:

If symptoms such as hypotonia, abnormal breathing, or ataxia are present, or if there is a family history of Joubert Syndrome, consult a geneticist or neurologist for evaluation and possible testing.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Variants of uncertain significance may be reported
  • ⚠Does not rule out other genetic causes of Joubert Syndrome

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Rare risk of infection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is CPLANE1 Gene Joubert Syndrome Type 17?
It is a subtype of Joubert Syndrome caused by mutations in the CPLANE1 gene, leading to cerebellar and brainstem abnormalities.
What are the symptoms of Joubert Syndrome Type 17?
Symptoms include hypotonia, abnormal breathing patterns, ataxia, intellectual disability, abnormal eye movements, and kidney problems.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze the CPLANE1 gene from a blood or saliva sample.
What is the cost of the test in India?
The cost is INR 20000, including free home sample collection.
Is home sample collection available?
Yes, free home sample collection is available across India for this test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample receipt.
What sample is required for the test?
Blood, extracted DNA, or one drop blood on FTA card can be used.
Is fasting required for the test?
No, fasting is not required for this genetic test.
Who should get this test?
Individuals with symptoms of Joubert Syndrome or a family history of the condition should consider this test.
What does a positive result mean?
A positive result indicates mutations in the CPLANE1 gene, confirming Joubert Syndrome type 17 diagnosis.
Are there any risks associated with the test?
Risks are minimal and include minor bruising from blood draw.
How can I book this test?
You can book online through the DNA Labs India website or call for assistance.
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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✓ 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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