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ACTA2 Gene Multisystemic smooth muscle dysfunction syndrome NGS Genetic Test

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ACTA2 Gene Multisystemic smooth muscle dysfunction syndrome NGS Genetic Test

Short Name: ACTA2 Gene NGS Test

Also known as: ACTA2-related disorder genetic test, Multisystemic smooth muscle dysfunction syndrome DNA test

ACTA2 Gene Multisystemic smooth muscle dysfunction syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood samples. Results in 3-4 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 3, 2026

Overview

The purpose of this test is to detect mutations in the ACTA2 gene to confirm a diagnosis of multisystemic smooth muscle dysfunction syndrome, enabling personalized treatment and family planning.

Test Code
5276
Price
₹20,000
Sample Type
Blood
Result Time
3-4 weeks
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree during genetic counseling.

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.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to discuss test implications and family history.
2
During the Test:Blood sample collection takes about 10-15 minutes.
3
After the Test:Results will be available in 3-4 weeks. Follow-up with a specialist is advised.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the ACTA2 gene to confirm a diagnosis of multisystemic smooth muscle dysfunction syndrome, enabling personalized treatment and family planning.

How to Prepare

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

Doctor's Notes

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

"This test is essential for diagnosing multisystemic smooth muscle dysfunction syndrome, which can lead to severe cardiovascular and other organ complications. Early detection allows for targeted management and genetic counseling."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5-10 mL
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at 2-8°C
Ship at room temperature within 24 hours
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect container

Understanding Your Results

Results indicate the presence or absence of mutations in the ACTA2 gene. A positive result confirms multisystemic smooth muscle dysfunction syndrome.
📊

Positive

Pathogenic mutation detected, confirming diagnosis

📊

Negative

No mutation detected, but clinical symptoms may require further testing

📊

Variant of uncertain significance

Genetic variant found, but clinical significance is unknown

⚠️ When to Consult a Doctor:

Consult a geneticist or cardiologist if symptoms persist or if family history suggests genetic disorder.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require clinical correlation
  • ⚠Limited to known ACTA2 gene variants

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare infection risk
  • ●Emotional impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample handling

Frequently Asked Questions

What is the ACTA2 Gene Multisystemic Smooth Muscle Dysfunction Syndrome NGS Genetic Test?
It is a genetic test that uses NGS technology to identify mutations in the ACTA2 gene, which causes multisystemic smooth muscle dysfunction syndrome.
Why is this test recommended?
It is recommended for individuals with symptoms like abdominal pain, breathing difficulties, or cardiovascular issues, and for those with a family history of the syndrome.
How is the test performed?
A blood sample is collected and analyzed using Next Generation Sequencing to detect ACTA2 gene mutations.
What is the cost of the test?
The test costs INR 20000, which includes sample collection and analysis.
How long does it take to get results?
Results are typically available within 3-4 weeks after sample collection.
Is home sample collection available?
Yes, free home sample collection is available across many cities in India.
What are the symptoms of multisystemic smooth muscle dysfunction syndrome?
Symptoms include abdominal pain, breathing difficulties, cardiovascular abnormalities, constipation, difficulty swallowing, difficulty urinating, joint pain, myopia, and stroke.
How accurate is the test?
The test is highly accurate using NGS technology, but results should be interpreted by a genetic specialist.
What should I do if the test is positive?
Consult a geneticist or cardiologist for management options, genetic counseling, and family screening.
Can this test be done for children?
Yes, the test can be performed on individuals of all ages, including children, with appropriate consent.
Is the test covered by insurance?
Coverage depends on your insurance policy; check with your provider for details.
How do I prepare for the test?
No special preparation is needed, but a genetic counseling session is recommended to discuss family history and test implications.
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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