NKX2-5 Gene Atrial Septal Defect with Atrioventricular Conduction Defects NGS Genetic DNA Test
Understanding the NKX2-5 Genetic Test
The NKX2-5 Gene Atrial Septal Defect with Atrioventricular Conduction Defects NGS Genetic DNA Test represents a breakthrough in cardiac genetic diagnostics. This comprehensive test specifically targets the NKX2-5 gene, a critical transcription factor that regulates heart development during embryonic stages. Mutations in this gene are strongly associated with congenital heart defects, particularly atrial septal defects (ASD) and various conduction abnormalities that can affect the heart’s electrical system.
What Does This Test Measure?
This advanced genetic test utilizes Next Generation Sequencing (NGS) technology to comprehensively analyze the NKX2-5 gene for:
- Point mutations and single nucleotide variations
- Insertions and deletions within the gene sequence
- Regulatory region abnormalities affecting gene expression
- Pathogenic variants linked to cardiac developmental disorders
- Genetic markers associated with atrioventricular conduction defects
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Family history of congenital heart defects
- Unexplained cardiac conduction abnormalities
- Diagnosed atrial septal defects requiring genetic correlation
- Multiple family members with heart rhythm disorders
- Children with developmental heart conditions
- Individuals with progressive atrioventricular block
- Patients with unexplained syncope or palpitations
Clinical Symptoms and Indications
Patients may exhibit various symptoms including:
- Heart murmurs detected during physical examination
- Fatigue and exercise intolerance
- Recurrent respiratory infections in children
- Abnormal electrocardiogram (ECG) findings
- Developmental delays in growth
- Cyanosis or bluish skin coloration
- Heart rhythm disturbances
Benefits of NKX2-5 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Early Detection: Identifies genetic predisposition before symptom onset
- Family Planning: Enables informed reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches
- Risk Assessment: Determines likelihood of disease transmission
- Proactive Monitoring: Facilitates regular cardiac surveillance
- Genetic Counseling: Provides comprehensive family risk evaluation
Understanding Your Test Results
Your genetic test results will fall into one of several categories:
- Positive Result: Indicates presence of pathogenic NKX2-5 mutation requiring cardiac specialist consultation and family screening
- Negative Result: Suggests absence of tested mutations, though other genetic factors may still contribute to cardiac conditions
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact, requiring ongoing research correlation
- Carrier Status: Determines if you carry a single copy of mutated gene with implications for offspring
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | NKX2-5 Gene Atrial Septal Defect with Atrioventricular Conduction Defects NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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) |
| Specialty | Pediatrics, Genetics |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our state-of-the-art genetic testing facilities ensure accurate and reliable results with comprehensive support throughout your testing journey.
Take Action Today
Don’t wait to get the answers you need for your cardiac health. Our experienced genetic counselors and cardiac specialists are ready to guide you through the testing process and help you understand your results. Early detection through genetic testing can significantly impact treatment outcomes and family planning decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your NKX2-5 genetic test and take the first step toward comprehensive cardiac health management.
