ACTC1 Gene Atrial Septal Defect Type 5 NGS Genetic DNA Test
Comprehensive Introduction to Cardiac Genetic Testing
The ACTC1 Gene Atrial Septal Defect Type 5 NGS Genetic DNA Test represents a breakthrough in cardiovascular genetic diagnostics. This advanced testing method specifically targets the ACTC1 gene, which encodes cardiac alpha-actin, a crucial protein for proper heart muscle function and development. Atrial septal defects are congenital heart conditions where abnormal openings persist in the wall separating the heart’s upper chambers, potentially leading to serious cardiovascular complications if left undiagnosed.
Our specialized genetic testing provides invaluable insights for individuals and families affected by inherited heart conditions. By identifying specific genetic mutations, healthcare providers can develop personalized treatment strategies and implement proactive monitoring protocols to optimize cardiac health outcomes throughout the patient’s lifespan.
What This Advanced Genetic Test Detects
The ACTC1 Gene Atrial Septal Defect Type 5 NGS Genetic DNA Test employs sophisticated Next Generation Sequencing technology to comprehensively analyze the ACTC1 gene for pathogenic variants. This test specifically identifies:
- Missense mutations affecting cardiac alpha-actin protein structure
- Frameshift mutations disrupting normal gene function
- Nonsense mutations leading to premature protein termination
- Splice site variants affecting mRNA processing
- Copy number variations within the ACTC1 gene region
These genetic alterations can significantly impact cardiac development during embryogenesis, potentially resulting in structural heart abnormalities that manifest as atrial septal defects and other congenital cardiac conditions.
Who Should Consider ACTC1 Genetic Testing
Clinical Indications and Symptoms
This specialized genetic test is particularly recommended for individuals presenting with:
- Family history of congenital heart defects or inherited cardiac conditions
- Unexplained cardiac symptoms in childhood or adulthood
- Previous diagnosis of atrial septal defect requiring genetic correlation
- Multiple family members with cardiovascular abnormalities
- Unexplained heart murmurs or abnormal echocardiogram findings
- Planning pregnancy with known family history of cardiac genetic disorders
Specific Clinical Scenarios
Patients experiencing recurrent respiratory infections, exercise intolerance, fatigue, or palpitations without clear explanation may benefit from genetic evaluation. Additionally, individuals with syndromic features alongside cardiac symptoms should consider comprehensive genetic assessment to identify potential underlying genetic causes.
Significant Benefits of ACTC1 Genetic Testing
Undergoing the ACTC1 Gene Atrial Septal Defect Type 5 NGS Genetic DNA Test provides numerous advantages for patients and their families:
- Precise Diagnosis: Accurate identification of specific genetic mutations enables targeted treatment approaches
- Family Planning Guidance: Genetic counseling helps families understand inheritance patterns and recurrence risks
- Early Intervention: Proactive monitoring and timely medical interventions improve long-term outcomes
- Personalized Treatment: Genetic information guides customized medical management strategies
- Psychological Relief: Understanding the genetic basis of cardiac conditions reduces uncertainty and anxiety
- Comprehensive Risk Assessment: Enables evaluation of associated health risks beyond cardiac manifestations
Understanding Your Genetic Test Results
Interpretation Guidelines
Our comprehensive genetic testing report provides detailed analysis with clear interpretation guidelines:
- Positive Result: Indicates identified pathogenic variant in ACTC1 gene, requiring consultation with cardiologist and genetic counselor
- Negative Result: No detected mutations in ACTC1 gene, though other genetic factors may contribute to cardiac conditions
- Variant of Uncertain Significance: Identified genetic change with unclear clinical impact, requiring ongoing monitoring and family studies
- Carrier Status: Important information for family planning and genetic counseling purposes
Post-Test Recommendations
Following test completion, patients receive comprehensive genetic counseling to discuss results, implications for family members, and appropriate follow-up care. Our team collaborates with referring physicians to ensure seamless integration of genetic findings into ongoing medical management.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | ACTC1 Gene Atrial Septal Defect Type 5 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) |
| Specialty | Cardiologist |
| Department | Genetics |
Pre-Test Preparation Requirements
To ensure optimal testing outcomes, patients should provide:
- Complete clinical history documentation
- Detailed family medical history including cardiac conditions
- Participation in genetic counseling session
- Development of comprehensive pedigree chart documenting affected family members
- Previous cardiac testing results and medical records
Nationwide Testing Availability
We proudly offer the ACTC1 Gene Atrial Septal Defect Type 5 NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories serve patients in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Each location maintains the highest standards of genetic testing excellence and patient care.
Take Control of Your Cardiac Health Today
Don’t let uncertainty about inherited cardiac conditions impact your health decisions. Our expert team of genetic counselors and cardiac specialists are ready to guide you through the testing process and help interpret your results. Early genetic identification empowers proactive health management and informed family planning decisions.
Schedule your ACTC1 Gene Atrial Septal Defect Type 5 NGS Genetic DNA Test today by calling our dedicated genetic testing specialists at +1(267) 388-9828 or book your appointment online through our secure patient portal.
Take the first step toward comprehensive cardiac genetic understanding and personalized healthcare management. Our commitment to excellence in genetic diagnostics ensures you receive the most accurate, reliable results to guide your cardiovascular health journey.
