Skip to main content
DNA Labs India

CC2D2A Gene Joubert syndrome type 9 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CC2D2A Gene Joubert syndrome type 9 NGS Genetic Test

Short Name: CC2D2A JBTS9 NGS

Also known as: Joubert syndrome type 9, JBTS9, CC2D2A-related Joubert syndrome

CC2D2A Gene Joubert syndrome type 9 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 Reports will be delivered within 3 to 4 weeks after the sample reaches the laboratory. A genetic counsellor or treating physician will help interpret the findings.. Free home collection in 300+ cities across India.

NGS Genetic TestAll age groups🏠 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 pathogenic or likely pathogenic variants in the CC2D2A gene that are associated with Joubert syndrome type 9. Genetic confirmation helps establish an accurate diagnosis, guide medical surveillance for associated complications, enable carrier testing in relatives, and provide recurrence risk information to the family.

Test Code
4154
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports will be delivered within 3 to 4 weeks after the sample reaches the laboratory. A genetic counsellor or treating physician will help interpret the findings.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Fasting is not required. The patient should carry all relevant medical records, MRI findings, previous genetic test reports and family history. A genetic counselling session is required before testing to document pedigree and obtain informed consent.

Method: Venipuncture or finger-prick blood spot on FTA card

Step 2

Laboratory Analysis

A trained phlebotomist will collect 2-3 mL of blood in an EDTA tube. If an FTA card is used, a small drop of blood is placed on the card from a finger prick. The procedure is quick and involves minimal discomfort.

Step 3

Report Delivery

No special precautions are needed. The patient can resume normal diet and activities immediately after the sample collection.

Timeline: Reports will be delivered within 3 to 4 weeks after the sample reaches the laboratory. A genetic counsellor or treating physician will help interpret the findings.

Patient Instructions

1
Before the Test:No fasting or preparation is required. A pre-test genetic counselling session is recommended to review the family history, explain the purpose of testing, and obtain informed consent.
2
During the Test:A small blood sample is collected. The sample is then sent to the laboratory, where DNA is extracted and the CC2D2A gene is analysed using NGS technology.
3
After the Test:There are no restrictions after sample collection. The report is usually available within 3 to 4 weeks. A post-test genetic counselling session is advised to understand the result and its implications.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic or likely pathogenic variants in the CC2D2A gene that are associated with Joubert syndrome type 9. Genetic confirmation helps establish an accurate diagnosis, guide medical surveillance for associated complications, enable carrier testing in relatives, and provide recurrence risk information to the family.

How to Prepare

  • Use EDTA tube for whole blood collection
  • Label the sample with patient name, UID and date of collection
  • Do not freeze whole blood
  • If using FTA card, allow the blood spot to air dry completely
  • For extracted DNA samples, avoid repeated freeze-thaw cycles

Doctor's Notes

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

"Patients with Joubert syndrome often first present in infancy with hypotonia, abnormal eye movements and breathing abnormalities. Early molecular confirmation is important because it allows clinicians to screen for renal, hepatic and ophthalmic complications and to provide accurate genetic counselling to the family."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 mL whole blood in EDTA; 1 drop blood on FTA card; or 0.5 mL extracted DNA
ContainerEDTA tube / FTA card / DNA vial
Collection MethodVenipuncture or finger-prick blood spot on FTA card

Sample Stability

Whole blood in EDTA: 2-8°C for up to 72 hours
Extracted DNA: -20°C for long-term storage
FTA card blood spot: Room temperature for several months
Sample Rejection Criteria:
  • Clotted or visibly hemolyzed blood sample
  • Mislabeled sample or incomplete requisition
  • Sample received after the maximum allowable storage time
  • Inadequate sample volume or insufficient DNA concentration

Understanding Your Results

This NGS genetic test analyses the CC2D2A gene to identify DNA variants associated with Joubert syndrome type 9. Results should be interpreted by a clinical geneticist or genetic counsellor in the context of the patient's clinical features and family history.
📊

Positive (pathogenic or likely pathogenic variant found)

Confirms the molecular diagnosis of Joubert syndrome type 9 in a symptomatic individual and enables targeted family testing and recurrence risk counselling.

📊

Negative (no pathogenic variant found)

Reduces the likelihood of CC2D2A-related Joubert syndrome, but does not exclude the condition caused by mutations in other genes or non-coding regions.

📊

Variant of uncertain significance (VUS)

A DNA change was detected whose clinical significance is not yet clear. Additional family testing may help determine whether the variant segregates with the disorder.

⚠️ When to Consult a Doctor:

Consult a treating neurologist or clinical geneticist if you or your child have symptoms suggestive of Joubert syndrome, if a pathogenic variant is identified, or if you have a family history and are planning a pregnancy.

Limitations

  • ⚠NGS may not detect all types of mutations such as large structural rearrangements, deep intronic variants, repeat expansions or large copy number changes
  • ⚠A negative result does not completely exclude Joubert syndrome caused by other genes
  • ⚠A variant of uncertain significance may require additional family studies for interpretation
  • ⚠This test is not intended for prenatal diagnosis unless specifically validated and discussed with a clinical geneticist

Risks & Considerations

  • ●Minimal discomfort from needle prick
  • ●Small chance of bruising, bleeding, or infection at the puncture site
  • ●No radiation or contrast material exposure

Interfering Factors

  • ●Clotted or hemolyzed blood samples
  • ●Degraded or insufficient DNA
  • ●Contamination of sample with foreign genetic material
  • ●Incorrect labelling or mismatched patient identifiers
  • ●Recent allogeneic stem cell transplant may affect blood-based DNA testing

Compare With Similar Tests

TestCC2D2A Gene Joubert syndrome type 9 NGS Genetic Test
ComparisonCC2D2A Gene Joubert syndrome type 9 NGS Genetic Test

Frequently Asked Questions

What is Joubert syndrome type 9?
Joubert syndrome type 9 is a rare inherited genetic disorder caused by variants in the CC2D2A gene. It is characterized by cerebellar vermis hypoplasia, hypotonia, developmental delay, abnormal breathing patterns and eye movements, and sometimes kidney or liver involvement. It follows autosomal recessive inheritance.
What does the CC2D2A gene test detect?
This NGS-based test detects sequence variants in the CC2D2A gene. It is designed to identify pathogenic or likely pathogenic variants that can cause Joubert syndrome type 9.
Who can benefit from this genetic test?
Individuals with features suggestive of Joubert syndrome, such as developmental delay, hypotonia, ataxia, breathing abnormalities, eye movement disorder, or cerebellar and brainstem abnormalities on MRI. It is also useful for recurrence-risk counselling in affected families.
What sample is needed for the CC2D2A gene NGS test?
The sample can be whole blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. DNA Labs India provides free home sample collection for online bookings.
Do I need to fast before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before the blood sample is collected.
What is the cost of this test at DNA Labs India?
The CC2D2A gene Joubert syndrome type 9 NGS genetic test costs Rs 20000.0 at DNA Labs India. Free home sample collection is available for online bookings.
How long does it take to get the report?
Test reports are usually delivered within 3 to 4 weeks after the sample reaches the laboratory.
Can this NGS test detect all types of CC2D2A mutations?
NGS can detect most sequence variants in coding regions and splice sites. It may not reliably detect large deletions, duplications, structural rearrangements, deep intronic variants or other complex genetic changes. Additional testing may be needed if clinical suspicion remains high.
What is a variant of uncertain significance (VUS)?
A VUS is a DNA change whose effect on health is not yet known. More family studies and updated databases may help reclassify the variant. In such cases, genetic counselling is recommended.
If the test result is negative, does it mean the patient does not have Joubert syndrome?
A negative result reduces the likelihood of a CC2D2A-related cause but does not entirely rule out Joubert syndrome. Other genes can cause similar conditions, so a comprehensive panel or exome sequencing may be considered.
Is the test available in cities across India?
Yes, DNA Labs India provides this test across major cities including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Jaipur and many other locations. Home sample collection is available for online bookings.
What should I do after I get the test result?
Discuss the report with a clinical geneticist or neurologist. If a disease-causing variant is found, genetic counselling can help the family understand inheritance, recurrence risk and management options.
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.