ACTA2 Gene Multisystemic smooth muscle dysfunction syndrome NGS Genetic Test
Short Name: ACTA2 NGS Genetic Test
Also known as: Multisystemic Smooth Muscle Dysfunction Syndrome Genetic Test, ACTA2-related Smooth Muscle Dysfunction NGS Test, ACTA2 Gene Sequencing, ACTA2 NGS Genetic 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 Reports are delivered within 3 to 4 weeks from the day the sample is received by the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify sequence variants in the ACTA2 gene using next-generation sequencing. It provides molecular confirmation of ACTA2 multisystemic smooth muscle dysfunction syndrome, supports clinical decision making, guides surveillance and management of vascular and non-vascular complications, and helps families with genetic counselling and reproductive planning.
- Test Code
- 4345
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- Reports are delivered within 3 to 4 weeks from the day the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counselling session is recommended before testing to draw a pedigree, collect relevant medical history, and discuss the benefits, risks, and limitations of the test. Please provide any previous imaging or vascular findings and documentation of a known familial ACTA2 variant, if available.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect a venous blood sample from a vein in your arm. The procedure takes only a few minutes. You may feel a brief needle prick, but it is generally well tolerated.
Report Delivery
After sample collection, you can resume your normal activities. The report will be delivered in 3 to 4 weeks. Your doctor or clinical geneticist will explain the result, its implications for your health, and any recommended next steps.
Timeline: Reports are delivered within 3 to 4 weeks from the day the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify sequence variants in the ACTA2 gene using next-generation sequencing. It provides molecular confirmation of ACTA2 multisystemic smooth muscle dysfunction syndrome, supports clinical decision making, guides surveillance and management of vascular and non-vascular complications, and helps families with genetic counselling and reproductive planning.
How to Prepare
- No need to fast for this test
- Carry a valid photo ID and completed consent form
- Provide a clear clinical history and family pedigree to the lab
- Wear short sleeves or loose sleeves for easy blood collection
- For home sample collection, keep your phone reachable so the phlebotomist can contact you
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This genetic test should be considered when there is a strong clinical suspicion of ACTA2 multisystemic smooth muscle dysfunction syndrome. Because this disorder can involve multiple organs, molecular confirmation is important for planning vascular surveillance and preventive care. If you have a personal or family history of young-onset aortic disease or unexplained smooth muscle dysfunction, please discuss genetic referral with your clinician."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood sample
- Incorrectly labelled sample or missing patient identity
- Sample received after prolonged transit time without appropriate temperature control
- Incomplete clinical history and consent documentation
Understanding Your Results
No clinically significant sequence variant was identified in the ACTA2 gene in this sample.
Clinical action: If clinical suspicion remains high, consider a broader multi-gene panel, imaging surveillance, and referral to a clinical geneticist for further evaluation.
Result type: No pathogenic variant detected
A variant consistent with ACTA2 multisystemic smooth muscle dysfunction syndrome was identified.
Clinical action: The family should be counselled, at-risk relatives offered predictive testing, and vascular surveillance should be initiated as recommended by the treating physician.
Result type: Pathogenic or Likely Pathogenic variant detected
A variant was identified but its clinical significance is not known at this time.
Clinical action: Correlate with clinical findings, perform familial segregation studies if possible, and review the variant as new clinical or laboratory evidence becomes available.
Result type: Variant of Uncertain Significance (VUS) detected
Consult a clinical geneticist or your primary care physician if you or a close family member has a history of young-onset aortic aneurysm or dissection, unexplained multisystemic smooth muscle dysfunction, or a known ACTA2 pathogenic variant. Seek urgent medical care for chest pain, acute back pain, fainting, or symptoms suggestive of aortic dissection.
Limitations
- ⚠This NGS test is specific to the ACTA2 gene and does not analyze all other genes associated with smooth muscle dysfunction or aortopathy
- ⚠Large deletions, duplications, deep intronic variants, or repeat expansions may not be detected by standard NGS
- ⚠A negative result does not exclude a genetic cause of the condition
- ⚠A variant of uncertain significance requires additional family studies and clinical correlation
Risks & Considerations
- ●Mild pain or bruising at the venipuncture site
- ●Rare risk of bleeding or infection at the needle site
- ●No radiation or contrast dye exposure because this is a blood-based genetic test
Interfering Factors
- ●Recent blood transfusion within the past 2 weeks may cause mixed DNA results
- ●Bone marrow transplantation can make the result reflect donor DNA rather than the patient's own DNA
- ●Low DNA yield, contamination, or sample degradation can affect sequencing quality
- ●Rare variants located in poorly covered genomic regions may not be detected by NGS
Compare With Similar Tests
| Test | ACTA2 Gene Multisystemic smooth muscle dysfunction syndrome NGS Genetic Test | ||
|---|---|---|---|
| Comparison | ACTA2 Gene Multisystemic smooth muscle dysfunction syndrome NGS Genetic Test | NGS sequences the entire coding region and conserved splice sites of ACTA2. Sanger-based targeted testing is typically used when a specific familial variant is already known for confirmation. | NGS detects single nucleotide variants and small insertions/deletions in ACTA2. Chromosomal microarray detects large copy number changes across the genome, but does not provide gene-level sequence analysis. |
Frequently Asked Questions
What is ACTA2 gene multisystemic smooth muscle dysfunction syndrome?
What does the ACTA2 NGS genetic test do?
Who should take this test?
How is the test performed?
Do I need to fast before this test?
What is the cost of the ACTA2 NGS genetic test at DNA Labs India?
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Can this test detect all genetic causes of smooth muscle dysfunction?
Is genetic counselling available before or after the test?
Can this test be done during pregnancy?
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₹20,000Reference Laboratory Services
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