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KRIT1 Gene Cerebral cavernous malformations type 1 NGS Genetic Test

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KRIT1 Gene Cerebral cavernous malformations type 1 NGS Genetic Test

Short Name: KRIT1 Gene CCM1 NGS Test

Also known as: CCM1 Genetic Test, KRIT1 Mutation Analysis, Cerebral Cavernous Malformation Type 1 Test

KRIT1 Gene Cerebral cavernous malformations type 1 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 3 to 4 weeks. 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 test is to identify mutations in the KRIT1 gene to diagnose cerebral cavernous malformations type 1 (CCM1), assess genetic risk, guide clinical management, and support genetic counseling for affected individuals and their families.

Test Code
5316
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counseling session is recommended to discuss family history and draw a pedigree chart. Provide clinical history of the patient.

Method: Venipuncture or Finger prick for FTA card

Step 2

Laboratory Analysis

Standard blood draw using venipuncture or finger prick for FTA card collection under sterile conditions.

Step 3

Report Delivery

Label the sample properly and transport to the laboratory under appropriate conditions for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss implications, family history, and obtain informed consent.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Wait for laboratory analysis and report generation. Follow up with a geneticist or neurologist for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the KRIT1 gene to diagnose cerebral cavernous malformations type 1 (CCM1), assess genetic risk, guide clinical management, and support genetic counseling for affected individuals and their families.

How to Prepare

  • Ensure proper patient identification and labeling
  • Use sterile collection equipment
  • Follow standard phlebotomy procedures
  • For FTA card, apply one drop of blood and air-dry

Doctor's Notes

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

"This test is essential for diagnosing CCM1, guiding treatment, and informing family planning through genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Finger prick for FTA card

Sample Stability

Blood: Stable at 2-8°C for up to 48 hours
Extracted DNA: Stable at -20°C for long-term storage
FTA card: Stable at room temperature for several years
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the KRIT1 gene, which is critical for diagnosing CCM1 and guiding clinical decisions.
Positive Result: Pathogenic mutation detected in the KRIT1 gene, consistent with a diagnosis of CCM1. Further clinical evaluation and management are recommended.
Negative Result: No pathogenic mutation detected. However, clinical correlation is necessary, as symptoms may be due to other causes or undetected variants.
Variant of Uncertain Significance (VUS): A genetic variant was identified, but its clinical significance is unclear. Additional testing and family studies may be required.
⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms like seizures, headaches, or neurological deficits, have a family history of CCM1, or if test results indicate a positive or uncertain finding.

Limitations

  • ⚠May not detect all possible mutations or variants of uncertain significance
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results should be correlated with clinical findings and imaging studies

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, including anxiety or stress
  • ●Potential for incidental findings unrelated to CCM1

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Insufficient DNA quantity
  • ●Technical errors in sequencing

Compare With Similar Tests

TestKRIT1 Gene Cerebral cavernous malformations type 1 NGS Genetic TestCCM2 Gene TestCCM3 Gene Test
ComparisonKRIT1 Gene Cerebral cavernous malformations type 1 NGS Genetic Test

Frequently Asked Questions

What is the KRIT1 Gene CCM1 NGS Genetic Test?
This test uses next-generation sequencing to detect mutations in the KRIT1 gene, which causes cerebral cavernous malformations type 1 (CCM1), a genetic disorder affecting brain blood vessels.
Who should consider taking this test?
Individuals with a family history of CCM1, symptoms like seizures or headaches, unexplained brain hemorrhage, or those seeking genetic counseling for family planning.
How is the test performed?
A blood sample or DNA extract is collected and analyzed using NGS technology to identify mutations in the KRIT1 gene.
What is the cost of the test in India?
The cost is approximately INR 20000, which may vary slightly by location but includes home sample collection.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What are the symptoms of CCM1?
Symptoms include seizures, headaches, weakness on one side of the body, nausea, vomiting, and difficulty speaking or understanding speech.
How is CCM1 diagnosed besides genetic testing?
CCM1 can also be diagnosed through imaging tests like MRI or CT scans to visualize abnormal blood vessels in the brain.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the KRIT1 gene, confirming a diagnosis of CCM1 and guiding further medical management.
What does a negative test result mean?
A negative result means no pathogenic mutation was detected, but clinical correlation is needed as symptoms may have other causes.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but there may be psychological impacts from the results. Genetic counseling is recommended.
How can I prepare for the test?
Prepare by providing clinical history, attending a genetic counseling session, and ensuring proper documentation. No fasting is required.
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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