ACTA2 Gene Multisystemic Smooth Muscle Dysfunction Syndrome NGS Genetic DNA Test
Understanding ACTA2 Gene Multisystemic Smooth Muscle Dysfunction Syndrome
ACTA2 gene multisystemic smooth muscle dysfunction syndrome is a rare genetic disorder caused by mutations in the ACTA2 gene, which encodes the alpha-2 actin protein found in smooth muscle cells throughout the body. This condition affects multiple organ systems, including blood vessels, gastrointestinal tract, bladder, and respiratory system. The ACTA2 protein plays a crucial role in maintaining the structural integrity and contractile function of smooth muscles, and mutations can lead to widespread dysfunction with potentially life-threatening consequences.
What This Test Measures and Detects
Our advanced NGS Genetic DNA Test specifically targets the ACTA2 gene to identify pathogenic variants responsible for multisystemic smooth muscle dysfunction syndrome. The test provides comprehensive analysis of:
- Point mutations in the ACTA2 gene coding regions
- Small insertions and deletions affecting gene function
- Pathogenic variants known to cause smooth muscle dysfunction
- Novel mutations with potential clinical significance
- Genetic markers associated with disease severity and progression
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Unexplained vascular abnormalities or aneurysms
- Family history of smooth muscle disorders or sudden cardiac death
- Multi-system involvement including gastrointestinal, urinary, and respiratory symptoms
- Progressive neurological symptoms without clear diagnosis
- Children with developmental delays and multiple organ system involvement
- Individuals with characteristic facial features associated with ACTA2 mutations
- Patients with unexplained stroke or cerebrovascular events
Benefits of ACTA2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out ACTA2-related multisystemic smooth muscle dysfunction syndrome
- Personalized Treatment: Guides targeted management strategies based on specific mutation type
- Family Planning: Provides crucial information for reproductive decisions and genetic counseling
- Proactive Monitoring: Enables early detection and intervention for at-risk family members
- Comprehensive Care: Facilitates multi-specialty coordination for optimal patient management
- Research Contribution: Advances understanding of rare genetic disorders and treatment options
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your ACTA2 gene test results:
- Positive Result: Indicates the presence of a pathogenic ACTA2 mutation. Our genetic counselors will explain the specific variant, associated risks, and recommended management strategies.
- Negative Result: Suggests no pathogenic ACTA2 mutations were detected, though other genetic or non-genetic causes should still be considered.
- Variant of Uncertain Significance (VUS): Identifies a genetic change with unknown clinical impact. Additional family testing may be recommended for clarification.
- Carrier Status: For family members, testing can identify asymptomatic carriers who may pass the condition to offspring.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | ACTA2 Gene Multisystemic Smooth Muscle Dysfunction Syndrome NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your ACTA2 genetic test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of affected family members with similar symptoms
- Review of previous diagnostic tests and imaging studies
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take the Next Step Toward Diagnosis
If you or a family member are experiencing symptoms suggestive of ACTA2-related multisystemic smooth muscle dysfunction syndrome, don’t delay in seeking answers. Our comprehensive genetic testing provides the clarity needed for proper diagnosis and management. Contact our genetic specialists today to schedule your consultation and testing.
Call or WhatsApp our genetic counseling team at +1(267) 388-9828 to book your ACTA2 Gene Multisystemic Smooth Muscle Dysfunction Syndrome NGS Genetic DNA Test today. Take control of your health journey with definitive genetic answers.
