Skip to main content
DNA Labs India

INPP5E Gene Joubert syndrome type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

INPP5E Gene Joubert syndrome type 1 NGS Genetic Test

Short Name: INPP5E Joubert Syndrome Type 1 NGS Test

Also known as: Joubert Syndrome Type 1, JBTS1

INPP5E Gene Joubert syndrome type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA 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 INPP5E gene to confirm a diagnosis of Joubert Syndrome Type 1, facilitate genetic counseling, and support clinical decision-making.

Test Code
1635
Price
₹20,000
Sample Type
Blood or Extracted DNA
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities unless advised otherwise.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling to discuss test implications and provide family history.
2
During the Test:Sample collection involves a simple blood draw, typically taking a few minutes.
3
After the Test:Results will be available in 3-4 weeks. Follow up with your physician for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the INPP5E gene to confirm a diagnosis of Joubert Syndrome Type 1, facilitate genetic counseling, and support clinical decision-making.

How to Prepare

  • Fast for 8-10 hours if required for other tests
  • Bring identification and prescription
  • Inform staff about any bleeding disorders or medications

Doctor's Notes

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

"This test is essential for accurate diagnosis of Joubert Syndrome Type 1, enabling targeted management and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrectly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the INPP5E gene. Interpretation should be done by a geneticist or neurologist in conjunction with clinical findings.
Positive: Pathogenic mutation detected, consistent with Joubert Syndrome Type 1 diagnosis
Negative: No pathogenic mutation detected, but clinical correlation recommended
Variant of uncertain significance: Further testing or family studies may be needed
⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if symptoms persist, worsen, or if genetic counseling is needed for family planning.

Limitations

  • ⚠May not detect all genetic variants in INPP5E or other genes
  • ⚠Results require interpretation in clinical context
  • ⚠Cannot rule out other causes of symptoms

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Emotional impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample handling

Frequently Asked Questions

What is Joubert Syndrome Type 1?
Joubert Syndrome Type 1 (JBTS1) is a rare genetic disorder affecting brainstem and cerebellum development, caused by mutations in the INPP5E gene, leading to neurological symptoms.
What are the common symptoms of JBTS1?
Symptoms include hypotonia, ataxia, abnormal breathing, eye movement abnormalities, cognitive impairment, delayed motor skills, and digit abnormalities.
How is JBTS1 diagnosed?
Diagnosis involves clinical evaluation, brain imaging (e.g., MRI), and genetic testing such as NGS sequencing of the INPP5E gene.
What is NGS genetic testing?
Next-generation sequencing (NGS) is an advanced technology that sequences multiple genes simultaneously to identify mutations, like those in the INPP5E gene for JBTS1.
What does the INPP5E Gene Joubert Syndrome Type 1 NGS Genetic Test involve?
It involves analyzing the INPP5E gene using NGS on a blood or DNA sample to detect mutations associated with JBTS1.
How much does the test cost in India?
The test costs INR 20,000 at DNA Labs India, with potential variations elsewhere.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across numerous cities in India for this test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What should I do before the test?
Undergo genetic counseling to discuss the test and provide family medical history. No specific fasting is required.
What do positive or negative results mean?
A positive result indicates a pathogenic INPP5E mutation, supporting a JBTS1 diagnosis. A negative result means no mutation was detected, but clinical correlation is advised.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, and emotional impact of results. Genetic counseling is provided to address concerns.
Where can I get this test done?
DNA Labs India provides this test with services across India, including major cities like Mumbai, Delhi, Bangalore, and more.
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.