Skip to main content
DNA Labs India

EXOSC8 Gene Joubert syndrome, EXOSC8 related NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

EXOSC8 Gene Joubert syndrome, EXOSC8 related NGS Genetic Test

Short Name: EXOSC8 Gene NGS Test

Also known as: Joubert Syndrome Type 15 Genetic Test, EXOSC8 Gene Mutation Analysis

EXOSC8 Gene Joubert syndrome, EXOSC8 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing for confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically delivered in 3 to 4 weeks from the date the sample is received by the laboratory. In some cases, there may be slight delays due to sequencing quality or the need for confirmatory testing.. 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 NGS genetic test is to identify pathogenic variants in the EXOSC8 gene, which is associated with Joubert syndrome 15 (JBTS15). This test aids in confirming a clinical diagnosis, enabling appropriate medical management, genetic counseling, and family planning decisions.

Test Code
4156
CPT Code
81408
ICD Code
Q04.3
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered in 3 to 4 weeks from the date the sample is received by the laboratory. In some cases, there may be slight delays due to sequencing quality or the need for confirmatory testing.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Sequencing for confirmation
Step 1

Sample Collection

A genetic counseling session is recommended. Please bring a detailed clinical history and any prior imaging or neurological reports. A pedigree chart of family members affected with Joubert syndrome or related neurological disorders should be prepared.

Method: Venipuncture or Finger Prick

Step 2

Laboratory Analysis

Blood will be drawn by a trained phlebotomist using a sterile needle. For FTA card, a few drops of blood are applied to the card. No special discomfort is expected.

Step 3

Report Delivery

No special precautions are needed after sample collection. The sample should be sent to the laboratory as per the instructions provided.

Timeline: Reports are typically delivered in 3 to 4 weeks from the date the sample is received by the laboratory. In some cases, there may be slight delays due to sequencing quality or the need for confirmatory testing.

Patient Instructions

1
Before the Test:A pre-test genetic counseling session is recommended to draw a pedigree chart and understand the implications of the test. Patients should provide their complete clinical history and any relevant neurological examination findings.
2
During the Test:The genetic test involves sequencing the EXOSC8 gene using NGS. The laboratory process may take a few weeks. The patient only needs to provide a blood sample or dried blood spot; no other procedures are involved.
3
After the Test:After the test, a genetic counselor or physician will discuss the results with the patient and explain the clinical significance, management options, and potential reproductive risks. Additional family member testing may be recommended.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic variants in the EXOSC8 gene, which is associated with Joubert syndrome 15 (JBTS15). This test aids in confirming a clinical diagnosis, enabling appropriate medical management, genetic counseling, and family planning decisions.

How to Prepare

  • No fasting or special preparation is required.
  • For blood collection, use an EDTA vacutainer and avoid hemolysis.
  • For FTA card, apply fresh blood directly onto the designated circle and allow to air dry completely.
  • Label all samples with the patient's full name, date of birth, and unique identification number.

Doctor's Notes

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

"Genetic testing for Joubert syndrome can help confirm the diagnosis and provide essential information for family planning and management. A multidisciplinary approach is key."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2 ml whole blood or 1 drop on FTA card
ContainerEDTA vacutainer / FTA card / DNA vial
Collection MethodVenipuncture or Finger Prick

Sample Stability

Whole blood (EDTA): 48 hours at 2-8°C
Extracted DNA: 6 months at -20°C
Dried blood spot (FTA card): 6 months at room temperature in a dry, sealed bag
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample quantity
  • Mislabeled or unlabeled sample container
  • Sample stored outside recommended temperature range
  • FTA card with insufficient or contaminated blood spots

Understanding Your Results

The test result will be interpreted by a clinical geneticist and reported with a clear classification of any detected variant. A genetic counseling session will be offered to discuss the implications of the result.
Positive: A pathogenic or likely pathogenic variant was identified in the EXOSC8 gene. This confirms the diagnosis of EXOSC8-related Joubert syndrome.
Negative: No pathogenic variant was identified in the EXOSC8 gene. This significantly reduces but does not completely exclude the possibility of EXOSC8-related Joubert syndrome; other genes or causes should be considered.
Variant of Uncertain Significance (VUS): A genetic variant was found, but its impact on health is currently unclear. Additional family testing or functional studies may be recommended.
⚠️ When to Consult a Doctor:

If you or your child have symptoms suggestive of Joubert syndrome, such as developmental delay, poor muscle tone, abnormal eye movements, or breathing irregularities, or if there is a family history of the condition, consult a medical geneticist or neurologist for evaluation and genetic counseling.

Limitations

  • ⚠This test detects mutations only in the EXOSC8 gene; it does not rule out other genetic causes of Joubert syndrome
  • ⚠Variants of uncertain clinical significance may be reported and require further evaluation
  • ⚠Structural rearrangements or deep intronic mutations may not be detected by standard NGS panels
  • ⚠The test is not intended for prenatal diagnosis unless specifically validated for that purpose

Interfering Factors

  • ●Maternal cell contamination in prenatal or neonatal samples
  • ●Presence of rare benign polymorphisms may require additional analysis
  • ●Low DNA quality or quantity leading to incomplete sequencing
  • ●Mosaicism at levels below the detection limit of NGS

Frequently Asked Questions

What is Joubert syndrome?
Joubert syndrome is a rare inherited neurological disorder characterized by underdevelopment of the cerebellar vermis and a distinctive brain malformation known as the molar tooth sign. It causes balance and coordination problems, developmental delays, breathing abnormalities, and sometimes kidney or eye issues.
What does the EXOSC8 gene do?
The EXOSC8 gene encodes a component of the RNA exosome complex, which is involved in processing and degrading RNA molecules. Mutations in this gene disrupt normal RNA metabolism, leading to abnormalities in brain development that cause Joubert syndrome type 15.
What is the EXOSC8 Gene Joubert syndrome NGS genetic test?
This test uses next-generation sequencing to read the DNA sequence of the EXOSC8 gene and detect mutations that are associated with Joubert syndrome 15. It is performed on a blood, extracted DNA, or dried blood spot sample.
Who should undergo this genetic test?
This test is recommended for individuals with clinical features suggestive of Joubert syndrome, including ataxia, hypotonia, developmental delay, and abnormal eye movements, as well as for relatives of an affected person who are at risk of carrying the mutation.
How is the test performed?
A small sample of blood is collected by a trained phlebotomist. Alternatively, a dried blood spot on an FTA card or extracted DNA sample can be submitted. The sample is sent to the laboratory, where NGS is performed to sequence the EXOSC8 gene.
Does the test require fasting?
No fasting is required. You can eat and drink normally before sample collection.
What is the turnaround time for this test?
Reports are typically delivered in 3 to 4 weeks after the sample reaches the laboratory.
Can this test predict the severity of Joubert syndrome?
No, genetic testing cannot reliably predict the severity or the exact clinical course of the disorder. Symptoms can vary widely even among individuals with the same mutation.
What does a positive test result mean?
A positive result means a disease-causing pathogenic variant was identified in the EXOSC8 gene. This confirms the diagnosis of EXOSC8-related Joubert syndrome in a symptomatic individual.
What does a negative test result mean?
A negative result means no pathogenic variant was detected in the EXOSC8 gene. However, it does not completely exclude Joubert syndrome, as mutations in other genes or non-coding regions may be responsible.
What is the cost of the test in India?
The cost is INR 20,000. DNA Labs India offers free home sample collection across major cities, and the test is available at a special discounted price of Rs 20,000 for online bookings.
Is a genetic counseling session included with this test?
Yes, pre-test genetic counseling is recommended and is part of the clinical history requirement. Post-test counseling is also provided to help interpret your results and discuss reproductive implications.
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.