Skip to main content
DNA Labs India

RASA1 Gene Capillary malformation-arteriovenous malformation NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

RASA1 Gene Capillary malformation-arteriovenous malformation NGS Genetic Test

Short Name: RASA1 CM-AVM NGS Test

Also known as: CM-AVM Genetic Test, RASA1 Mutation Analysis, Vascular Malformation Genetic Test

RASA1 Gene Capillary malformation-arteriovenous malformation 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

The purpose of this test is to detect mutations in the RASA1 gene that cause Capillary Malformation-Arteriovenous Malformation (CM-AVM), enabling accurate diagnosis, risk assessment, and personalized management to prevent complications such as stroke or bleeding.

Test Code
5314
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 specific preparation required. Provide clinical history and family pedigree chart during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a family pedigree chart.
2
During the Test:Blood sample collection via venipuncture; minimal discomfort.
3
After the Test:Monitor the puncture site for any signs of infection or excessive bleeding.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the RASA1 gene that cause Capillary Malformation-Arteriovenous Malformation (CM-AVM), enabling accurate diagnosis, risk assessment, and personalized management to prevent complications such as stroke or bleeding.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for blood collection
  • Label samples correctly
  • Transport samples at ambient temperature

Doctor's Notes

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

"Genetic testing for RASA1 mutations is crucial for accurate diagnosis and personalized management of Capillary Malformation-Arteriovenous Malformation, helping to prevent complications like stroke or bleeding."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the RASA1 gene. A positive result confirms CM-AVM diagnosis, while a negative result may require further testing or clinical evaluation.
Positive result: Pathogenic variant detected, confirming CM-AVM; refer for genetic counseling and management.
Negative result: No pathogenic variants detected; consider other genetic or clinical causes.
Variant of uncertain significance (VUS): Further family studies or functional analysis may be needed.
Consult a geneticist for comprehensive interpretation and family risk assessment.
⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms like unexplained birthmarks, AVMs, bleeding, stroke-like symptoms, or seizures, especially with a family history of vascular disorders.

Limitations

  • ⚠May not detect all types of RASA1 mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings
  • ⚠Limited to known pathogenic variants in databases

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood samples
  • ●Incorrect sample storage

Frequently Asked Questions

What is the RASA1 Gene CM-AVM NGS Genetic Test?
This test uses next-generation sequencing to detect mutations in the RASA1 gene, which causes Capillary Malformation-Arteriovenous Malformation (CM-AVM), a rare vascular disorder.
Who should consider this test?
Individuals with symptoms like red birthmarks, arteriovenous malformations, unexplained bleeding, or a family history of CM-AVM should consider this test.
What is the cost of the test in India?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across many cities.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to sequence the entire RASA1 gene for mutations.
What are the symptoms of CM-AVM?
Symptoms include red or pink birthmarks, arteriovenous malformations, abnormal bleeding, stroke, seizures, pain, or swelling in affected areas.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required for this test?
No, fasting is not required for this genetic test.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted samples.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
What if the test result is positive?
A positive result confirms CM-AVM diagnosis; genetic counseling and medical management are recommended to prevent complications.
Is genetic counseling included?
Yes, a genetic counseling session to draw a family pedigree chart is part of the pre-test information.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw, but emotional impact of results should be considered.
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

MMC (Maternal Myopathy with Cardiomyopathy) Mutation Detection Test

₹11,500

LPA Gene Coronary artery disease, susceptibility to NGS Genetic Test

₹20,000

ITIH4 Gene Hypercholesterolemia, susceptibility to NGS Genetic Test

₹20,000

PPP1R17 Gene Hypercholesterolemia, susceptibility to NGS Genetic Test

₹20,000

APOA1 Gene Hypoalphalipoproteinemia NGS Genetic Test

₹20,000

GJC2 Gene Lymphedema, hereditary, type IC NGS Genetic Test

₹20,000
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.