GATA6 Gene Atrioventricular Septal Defect Type 5 NGS Genetic DNA Test
Comprehensive Introduction to GATA6 Genetic Testing
The GATA6 Gene Atrioventricular Septal Defect Type 5 NGS Genetic DNA Test represents a breakthrough in cardiovascular genetic diagnostics. This advanced testing methodology provides crucial insights into inherited cardiac conditions that can significantly impact patient health and family planning decisions. At General Genetics Corporation, we utilize state-of-the-art Next Generation Sequencing technology to deliver precise, reliable results that empower both patients and healthcare providers with actionable genetic information.
What Does This Test Measure and Detect?
This specialized genetic test specifically targets mutations in the GATA6 gene, which plays a critical role in cardiac development and function. The test identifies:
- Pathogenic variants in the GATA6 gene associated with atrioventricular septal defects
- Single nucleotide polymorphisms (SNPs) affecting cardiac structure development
- Copy number variations that may contribute to congenital heart abnormalities
- Inheritance patterns of GATA6-related cardiac conditions
- Genetic markers predictive of cardiovascular complications
Clinical Significance of GATA6 Mutations
Mutations in the GATA6 gene are directly linked to Type 5 Atrioventricular Septal Defect, a serious congenital heart condition characterized by abnormal development of the heart’s chambers and valves. Understanding these genetic variations enables early intervention and personalized treatment approaches that can significantly improve patient outcomes.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals experiencing or at risk for:
- Family history of congenital heart defects or unexplained cardiac abnormalities
- Previous diagnosis of atrioventricular septal defects without known genetic cause
- Multiple family members with structural heart conditions
- Couples planning pregnancy with known cardiac genetic risks
- Unexplained cardiac symptoms in infants or children
- Individuals with syndromic features alongside cardiac abnormalities
Symptoms and Clinical Indicators
Patients may present with various symptoms including heart murmurs, cyanosis (bluish skin coloration), breathing difficulties, poor feeding in infants, fatigue during physical activity, and recurrent respiratory infections. Early genetic testing can provide clarity and guide appropriate medical management.
Significant Benefits of GATA6 Genetic Testing
Undergoing this comprehensive genetic analysis offers numerous advantages:
- Early Detection and Prevention: Identify genetic risks before symptoms manifest, enabling proactive monitoring
- Personalized Treatment Plans: Tailor cardiac care based on specific genetic findings
- Family Planning Guidance: Make informed decisions about pregnancy and genetic counseling
- Improved Prognostic Accuracy: Better predict disease progression and potential complications
- Targeted Surveillance: Implement appropriate cardiac screening protocols for at-risk family members
- Peace of Mind: Reduce uncertainty through definitive genetic diagnosis
Understanding Your Test Results
Our comprehensive genetic counseling services ensure you fully understand your test outcomes:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic GATA6 gene mutation. This finding enables:
- Implementation of specialized cardiac monitoring protocols
- Early intervention strategies to prevent complications
- Family member screening recommendations
- Collaborative care planning with cardiology specialists
Negative Result Interpretation
A negative result suggests no detectable GATA6 mutations were found. However, continued clinical monitoring may still be recommended based on individual circumstances and family history.
Variant of Uncertain Significance (VUS)
Some genetic changes may require additional research and family studies to determine clinical significance. Our genetic counselors provide ongoing support and interpretation as new information becomes available.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | GATA6 Gene Atrioventricular Septal Defect Type 5 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next Generation Sequencing (NGS) Technology |
| Specialty | Cardiologist, Genetics Department |
Pre-Test Requirements and Preparation
To ensure optimal testing conditions and accurate results:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Identification of family members affected by GATA6-related conditions
- Discussion of testing implications and potential outcomes
- Informed consent process for genetic testing
Nationwide Accessibility
General Genetics Corporation maintains comprehensive testing facilities across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for patients throughout the country.
Take Control of Your Cardiac Health Today
Don’t leave your cardiovascular health to chance. The GATA6 Gene Atrioventricular Septal Defect Type 5 NGS Genetic DNA Test provides the clarity and confidence needed to make informed healthcare decisions. Our team of genetic specialists and cardiology experts are ready to support you through every step of the testing process.
Ready to schedule your genetic test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic cardiac risks and securing better health outcomes for you and your family.
