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CCM2 Gene Cerebral cavernous malformations type 2 NGS Genetic Test

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CCM2 Gene Cerebral cavernous malformations type 2 NGS Genetic Test

Short Name: CCM2 Gene NGS Genetic Test

Also known as: CCM2 Gene Test, Cerebral Cavernous Malformations Type 2 Genetic Test

CCM2 Gene Cerebral cavernous malformations type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, 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 TestAdults🏠 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

To diagnose mutations in the CCM2 gene causing cerebral cavernous malformations type 2, enabling early intervention, family risk assessment, and personalized management.

Test Code
5317
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide detailed clinical history of the patient. Attend a genetic counseling session to draw a pedigree chart of family members affected with CCM2 or related conditions.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood collection procedure via venipuncture, or use of FTA card for one drop of blood.

Step 3

Report Delivery

Sample is labeled, stored appropriately, and transported to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and pedigree analysis are recommended before testing to understand implications and family risks.
2
During the Test:Sample is processed using next-generation sequencing technology to analyze the CCM2 gene for mutations.
3
After the Test:Results are reviewed by a geneticist, and a report is generated with interpretation and recommendations.

About This Test

Who Should Get This Test

To diagnose mutations in the CCM2 gene causing cerebral cavernous malformations type 2, enabling early intervention, family risk assessment, and personalized management.

How to Prepare

  • Provide comprehensive clinical history and family medical details
  • Attend a genetic counseling session prior to sample collection
  • Draw a pedigree chart showing affected family members
  • Ensure sample is collected in a sterile environment to avoid contamination

Doctor's Notes

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

"Genetic testing for CCM2 is crucial for early diagnosis and management of cerebral cavernous malformations, aiding in family planning and personalized treatment strategies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood: Stable for 24-48 hours at room temperature
Extracted DNA: Stable for extended periods when stored properly
FTA Card: Stable for several years if kept dry
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling or missing patient information
  • Contaminated or degraded sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the CCM2 gene, which are associated with cerebral cavernous malformations type 2.
Positive: Pathogenic variant detected in CCM2 gene, confirming diagnosis of CCM2 and increased risk for family members
Negative: No pathogenic variants detected, but clinical correlation is advised as symptoms may be due to other causes
Variant of uncertain significance (VUS): Genetic change identified but clinical significance unknown; further testing or family studies may be needed
Inconclusive: Test unable to provide definitive results; repeat testing or alternative methods may be considered
⚠️ When to Consult a Doctor:

Consult a healthcare provider or genetic counselor if symptoms persist, worsen, or if there is a family history of cerebral cavernous malformations. Discuss results for appropriate management and family planning.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Variants of uncertain significance (VUS) may require further investigation
  • ⚠Does not rule out other genetic causes of vascular malformations
  • ⚠Results should be interpreted in conjunction with clinical findings and family history

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising, swelling, or infection at the puncture site
  • ●Psychological impact of genetic results, including anxiety or stress
  • ●Potential for incidental findings unrelated to CCM2

Interfering Factors

  • ●Poor sample quality or degradation
  • ●Contamination during sample collection or processing
  • ●Technical errors in sequencing or analysis
  • ●Insufficient DNA quantity

Compare With Similar Tests

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Frequently Asked Questions

What is the CCM2 Gene NGS Genetic Test?
It is a next-generation sequencing test that analyzes the CCM2 gene for mutations causing cerebral cavernous malformations type 2, a genetic vascular disorder in the brain and spinal cord.
Who should consider getting this test?
Individuals with a family history of cerebral cavernous malformations, symptoms like seizures or headaches, or those diagnosed with vascular malformations via imaging should consider this test.
What are the symptoms of CCM2?
Symptoms include seizures, headaches, weakness or numbness in limbs, difficulty speaking, visual disturbances, and balance problems, typically appearing in early adulthood.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed using next-generation sequencing technology to detect mutations in the CCM2 gene.
What is the cost of the CCM2 Gene NGS Genetic Test?
The test costs INR 20000.0 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the CCM2 gene, confirming a diagnosis of CCM2 and an increased risk for family members.
What are the risks of the test?
Risks are minimal, including bruising from blood draw, but genetic results may have psychological implications; genetic counseling is recommended.
Can this test be used for prenatal diagnosis?
Yes, in families with known CCM2 mutations, prenatal testing may be possible through genetic counseling and specialized procedures.
Is genetic counseling required before the test?
Genetic counseling is strongly recommended to understand the test's implications, interpret results, and discuss family planning options.
How accurate is the NGS test for CCM2?
NGS is highly accurate and sensitive for detecting mutations in the CCM2 gene, but results should be correlated with clinical findings and family history.
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.

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.

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