Skip to main content
DNA Labs India

CC2D2A Gene COACH syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CC2D2A Gene COACH syndrome NGS Genetic Test

Short Name: CC2D2A NGS Test

CC2D2A Gene COACH syndrome 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 SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To diagnose COACH syndrome by detecting pathogenic mutations in the CC2D2A gene, enabling early intervention, family planning, and management of symptoms.

Test Code
1561
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

No special preparation required. Provide clinical history and genetic counseling session for pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm. For FTA card, one drop of blood is collected.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. No specific post-collection care needed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and undergo genetic counseling to understand test implications.
2
During the Test:Sample collection via blood draw; procedure takes a few minutes.
3
After the Test:Wait for results, which are typically available in 3-4 weeks. Discuss findings with a geneticist.

About This Test

Who Should Get This Test

To diagnose COACH syndrome by detecting pathogenic mutations in the CC2D2A gene, enabling early intervention, family planning, and management of symptoms.

How to Prepare

  • Ensure patient identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for COACH syndrome is crucial for early diagnosis and management. It helps in family planning and identifying carriers. Consult a genetic counselor for personalized advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Contaminated samples
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the CC2D2A gene. Positive results confirm COACH syndrome diagnosis, while negative results may require further testing if symptoms persist.
📊

Pathogenic variant detected

Confirms diagnosis of COACH syndrome. Genetic counseling recommended for family management.

📊

No pathogenic variant detected

COACH syndrome unlikely, but clinical correlation needed. Consider other genetic tests if symptoms present.

⚠️ When to Consult a Doctor:

Consult a healthcare professional if symptoms such as seizures, intellectual disability, or abnormal eye movements are present, or if there is a family history of COACH syndrome.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for result interpretation
  • ⚠Limited to known pathogenic variants in databases

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Insufficient DNA quality
  • ●Hemolysis in blood samples

Compare With Similar Tests

TestCC2D2A Gene COACH syndrome NGS Genetic TestWhole Exome SequencingKaryotyping
ComparisonCC2D2A Gene COACH syndrome NGS Genetic Test

Frequently Asked Questions

What is COACH syndrome?
COACH syndrome is a rare genetic disorder affecting the brain, eyes, and organs, caused by mutations in the CC2D2A gene.
What causes COACH syndrome?
It is caused by mutations in the CC2D2A gene, inherited in an autosomal recessive pattern.
What are the symptoms of COACH syndrome?
Symptoms include brain malformations, seizures, intellectual disability, abnormal eye movements, and congenital heart defects.
How is COACH syndrome diagnosed?
Diagnosis involves clinical evaluation and genetic testing, such as the NGS Genetic Test for the CC2D2A gene.
What is the CC2D2A gene?
The CC2D2A gene provides instructions for a protein important in cilia function and organ development.
What is the NGS Genetic Test?
NGS (Next-Generation Sequencing) is a advanced genetic test that sequences DNA to detect mutations accurately.
What is the cost of the test in India?
The test costs INR 20000.0 at DNA Labs India, with home collection available.
Is the test covered by insurance?
Coverage depends on insurance provider and criteria like family history; check with your insurer.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
Who should get this test?
Individuals with symptoms of COACH syndrome, family history, or carriers seeking confirmation.
What is the treatment for COACH syndrome?
Treatment is supportive and focuses on managing symptoms; early diagnosis aids in planning care.
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.