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ACTA2 Gene Moyamoya disease type 5 NGS Genetic Test

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ACTA2 Gene Moyamoya disease type 5 NGS Genetic Test

Also known as: ACTA2 Gene Mutation Test, Moyamoya Disease Genetic Test

ACTA2 Gene Moyamoya disease type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the ACTA2 Gene Moyamoya Disease Type 5 NGS Genetic Test is to identify mutations in the ACTA2 gene that cause Moyamoya disease type 5. This test aids in confirming diagnosis, assessing genetic risk for family members, and guiding personalized treatment strategies.

Test Code
5277
Price
₹20,000
Sample Type
Blood
Result Time
3-4 weeks
Fasting Required
No
Method
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

No special preparation is required. Inform the healthcare provider about any medications or recent medical procedures.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities unless advised otherwise.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:No specific preparation needed. Provide clinical history and family pedigree information.
2
During the Test:Blood sample collection takes about 10-15 minutes. The sample is sent to the lab for NGS analysis.
3
After the Test:Results are available in 3-4 weeks. Discuss results with a genetic counselor or physician.

About This Test

Who Should Get This Test

The purpose of the ACTA2 Gene Moyamoya Disease Type 5 NGS Genetic Test is to identify mutations in the ACTA2 gene that cause Moyamoya disease type 5. This test aids in confirming diagnosis, assessing genetic risk for family members, and guiding personalized treatment strategies.

How to Prepare

  • Ensure the patient is relaxed and hydrated
  • Use aseptic technique for blood collection
  • Label the sample correctly with patient details

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for ACTA2 mutations is crucial for early diagnosis and management of Moyamoya disease type 5, especially in families with a history of cerebrovascular disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
ContainerEDTA Tube
Collection MethodVenipuncture

Sample Stability

Room temperature24 hours
Refrigerated7 days
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results from the ACTA2 Gene Moyamoya Disease Type 5 NGS Genetic Test indicate the presence or absence of mutations in the ACTA2 gene. A positive result confirms a genetic predisposition to Moyamoya disease type 5, while a negative result suggests no known pathogenic variants were detected.
📊

Positive

Mutation detected in ACTA2 gene, confirming diagnosis of Moyamoya disease type 5. Genetic counseling recommended.

📊

Negative

No pathogenic variant detected. Clinical correlation and further testing may be needed if symptoms persist.

📊

Variant of Uncertain Significance

A genetic variant was found but its clinical significance is unknown. Follow-up testing and consultation advised.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms like severe headaches, seizures, weakness, or speech difficulties, or if you have a family history of Moyamoya disease. After receiving test results, seek genetic counseling for interpretation and management.

Limitations

  • ⚠May not detect all genetic variants or mutations in non-coding regions
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not rule out other causes of Moyamoya disease

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Very low risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Recent blood transfusion

Compare With Similar Tests

TestACTA2 Gene Moyamoya disease type 5 NGS Genetic TestMRI/MRACerebral AngiogramRNF213 Gene TestComprehensive Moyamoya Panel
ComparisonACTA2 Gene Moyamoya disease type 5 NGS Genetic Test

Frequently Asked Questions

What is ACTA2 Gene Moyamoya Disease Type 5?
It is a form of Moyamoya disease caused by mutations in the ACTA2 gene, leading to cerebrovascular abnormalities.
Who should get this genetic test?
Individuals with a family history of Moyamoya disease, symptoms like headaches or seizures, or those diagnosed with cerebrovascular issues.
How is the test performed?
The test uses NGS technology to analyze DNA from a blood sample for mutations in the ACTA2 gene.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with free home sample collection.
Is fasting required for this test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3-4 weeks after sample collection.
What does a positive result mean?
A positive result indicates a mutation in the ACTA2 gene, confirming a diagnosis of Moyamoya disease type 5.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across India.
Is genetic counseling provided?
Yes, genetic counseling is recommended and may be included in the service to help interpret results.
What are the risks of the test?
The test involves minimal risks from blood draw, such as bruising. Emotional impact of results is possible.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting genetic mutations, but results should be interpreted by a specialist.
What should I do after receiving results?
Consult a genetic counselor or physician to understand the implications and discuss 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.

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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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