CACNA1C Gene Long QT Syndrome Type 8 NGS Genetic DNA Test
Understanding Long QT Syndrome Type 8
Long QT Syndrome Type 8, also known as Timothy Syndrome, is a rare but serious genetic disorder affecting the heart’s electrical system. This condition is caused by mutations in the CACNA1C gene, which encodes a calcium channel protein essential for proper heart muscle contraction and electrical signaling. When this gene malfunctions, it disrupts the heart’s normal rhythm, leading to prolonged QT intervals on electrocardiograms and increasing the risk of dangerous arrhythmias.
What Our Test Detects
Our advanced NGS Genetic DNA Test specifically analyzes the CACNA1C gene for mutations associated with Long QT Syndrome Type 8. The test examines:
- Point mutations in the CACNA1C gene coding regions
- Insertions and deletions affecting calcium channel function
- Genetic variants known to cause cardiac conduction abnormalities
- Novel mutations that may impact calcium channel regulation
Advanced NGS Technology
We utilize state-of-the-art Next-Generation Sequencing technology that provides comprehensive analysis of the entire CACNA1C gene with exceptional accuracy and sensitivity. This advanced methodology ensures reliable detection of even rare genetic variants that traditional testing methods might miss.
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Unexplained fainting spells or syncope episodes
- Family history of sudden cardiac death or arrhythmias
- Abnormal ECG findings showing prolonged QT intervals
- Diagnosed Long QT Syndrome without identified genetic cause
- Children with developmental delays and cardiac symptoms
- Individuals with Timothy Syndrome symptoms including webbed fingers/toes
Family Risk Assessment
Genetic testing becomes particularly important when multiple family members show cardiac symptoms or when there’s a pattern of unexplained cardiac events across generations. Early detection through genetic testing can help protect entire families from potential cardiac emergencies.
Benefits of Genetic Testing
Undergoing CACNA1C genetic testing provides numerous advantages:
- Early Risk Identification: Detect genetic predisposition before symptoms appear
- Personalized Treatment: Guide medication choices and lifestyle recommendations
- Family Planning: Make informed decisions about genetic inheritance risks
- Proactive Monitoring: Implement appropriate cardiac surveillance protocols
- Peace of Mind: Reduce uncertainty about cardiac health status
- Preventive Interventions: Implement strategies to prevent cardiac events
Understanding Your Test Results
Your genetic test results will fall into one of several categories:
Positive Result
A positive result indicates the presence of a known pathogenic mutation in the CACNA1C gene. This confirms the genetic diagnosis of Long QT Syndrome Type 8 and enables:
- Implementation of targeted treatment strategies
- Family member testing and genetic counseling
- Regular cardiac monitoring and specialist care
- Lifestyle modifications to reduce arrhythmia risk
Negative Result
A negative result means no known pathogenic mutations were detected in the CACNA1C gene. However, this doesn’t completely rule out Long QT Syndrome, as other genetic causes may be involved. Further evaluation with a cardiologist is recommended.
Variant of Uncertain Significance
Sometimes, genetic testing identifies variations whose clinical significance is unknown. In such cases, ongoing research and family studies may help clarify the variant’s importance over time.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Details
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Specialty: Cardiology and Genetics
- Testing Method: Next-Generation Sequencing (NGS) Technology
Pre-Test Preparation
Before your test, we recommend:
- Providing complete clinical history including cardiac symptoms
- Undergoing genetic counseling to understand implications
- Creating a family pedigree chart of affected relatives
- Discussing testing with your cardiologist or primary care physician
Nationwide Testing Availability
We have testing facilities conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and cardiology specialists ensures you receive comprehensive care regardless of your location.
Take Control of Your Cardiac Health Today
Don’t wait for symptoms to appear before taking action. Genetic testing for CACNA1C mutations can provide life-saving information for you and your family. Our experienced team of genetic specialists and cardiologists are ready to guide you through the testing process and help interpret your results.
Ready to schedule your test? Call us today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic cardiac risk and protecting your heart health for years to come.
