ABCC6 Gene Arterial Calcification Type 2 Generalized Infantile NGS Genetic DNA Test
Comprehensive Genetic Testing for Vascular Health
The ABCC6 Gene Arterial Calcification Type 2 Generalized Infantile NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with Generalized Arterial Calcification of Infancy (GACI). This rare but serious vascular condition affects infants and young children, causing abnormal calcium accumulation in arterial walls that can lead to life-threatening cardiovascular complications. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting ABCC6 gene mutations, enabling early intervention and personalized treatment strategies.
What This Test Measures and Detects
This specialized genetic test employs next-generation sequencing (NGS) technology to comprehensively analyze the ABCC6 gene for pathogenic variants. The test specifically identifies:
- Point mutations, deletions, and insertions in the ABCC6 gene
- Variants associated with disrupted pyrophosphate metabolism
- Genetic markers for abnormal vascular calcification processes
- Inheritance patterns for family planning considerations
- Risk assessment for future cardiovascular complications
Clinical Significance of ABCC6 Gene Analysis
The ABCC6 gene encodes a transmembrane protein crucial for regulating extracellular pyrophosphate levels, which naturally inhibits soft tissue calcification. Mutations in this gene disrupt normal calcium metabolism, leading to the characteristic arterial calcification seen in GACI. Early detection through our NGS testing allows for timely medical interventions that can significantly improve patient outcomes.
Who Should Consider This Genetic Test
This test is particularly recommended for individuals and families experiencing:
- Infants presenting with unexplained cardiovascular symptoms
- Family history of sudden infant death with vascular complications
- Unexplained arterial calcification in pediatric patients
- Parents planning pregnancy with family history of vascular disorders
- Siblings of affected individuals for carrier status determination
- Patients with suspected pseudoxanthoma elasticum (PXE) manifestations
Symptom Presentation Indicators
Clinical manifestations that warrant consideration of ABCC6 genetic testing include respiratory distress in infancy, poor feeding, hypertension, heart failure symptoms, and evidence of widespread arterial calcification on imaging studies. Early recognition of these signs followed by genetic confirmation can be life-saving.
Benefits of ABCC6 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Early Diagnosis: Enables prompt intervention before severe complications develop
- Family Planning: Provides crucial information for reproductive decision-making
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic profile
- Risk Assessment: Identifies at-risk family members for proactive monitoring
- Peace of Mind: Reduces uncertainty through definitive genetic diagnosis
- Research Contribution: Advances understanding of rare vascular disorders
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your ABCC6 test results effectively:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the ABCC6 gene, confirming the diagnosis of Generalized Arterial Calcification of Infancy or related disorders. This finding enables implementation of specialized medical management protocols, including bisphosphonate therapy and cardiovascular monitoring.
Negative Result Implications
A negative result suggests that no disease-causing mutations were detected in the ABCC6 gene. However, clinical correlation remains essential, as other genetic or environmental factors may contribute to similar symptoms. Our genetic counselors provide detailed guidance on next steps and alternative diagnostic considerations.
Variant of Uncertain Significance (VUS)
In some cases, genetic variants of uncertain clinical significance may be identified. Our team provides ongoing monitoring and reclassification services as new research emerges, ensuring you receive the most current interpretation of your genetic information.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood |
Pre-Test Requirements
Before scheduling your ABCC6 genetic test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Family pedigree analysis to identify inheritance patterns
- Review of previous imaging and laboratory studies
Nationwide Testing Accessibility
GGC DNA 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 families throughout the country.
Take Control of Your Vascular Health Today
Don’t let uncertainty about genetic vascular disorders impact your family’s future. Our ABCC6 Gene Arterial Calcification Type 2 NGS Genetic DNA Test provides the definitive answers you need for informed medical decisions and peace of mind. With our discounted price of $500 and comprehensive genetic counseling support, you can access world-class diagnostic expertise.
Ready to schedule your genetic test? Contact our dedicated genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Take the first step toward understanding your genetic vascular health – call now to schedule your ABCC6 genetic analysis and join thousands of families who have found answers through GGC DNA’s advanced genetic testing services.