SCN5A Gene Heart Block Progressive Familial Type 1A NGS Genetic DNA Test
Comprehensive Introduction to SCN5A Genetic Testing
The SCN5A Gene Heart Block Progressive Familial Type 1A NGS Genetic DNA Test represents a breakthrough in cardiac genetic diagnostics, offering precise identification of inherited heart conduction disorders. This advanced genetic analysis specifically targets mutations in the SCN5A gene, which encodes the cardiac sodium channel Nav1.5 protein crucial for proper electrical conduction in the heart. Progressive familial heart block type 1A is a serious inherited condition characterized by progressive impairment of the heart’s electrical system, potentially leading to complete heart block and life-threatening arrhythmias.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test specifically analyzes:
- Complete sequencing of the SCN5A gene for pathogenic variants
- Detection of mutations associated with progressive cardiac conduction disease
- Identification of genetic markers linked to Brugada syndrome and long QT syndrome type 3
- Assessment of sodium channel dysfunction affecting heart rhythm
- Evaluation of inherited risk factors for sudden cardiac death
Technical Methodology
Utilizing state-of-the-art Next-Generation Sequencing technology, our test provides comprehensive coverage of the entire SCN5A gene coding region, including all exons and flanking intronic regions. This high-resolution analysis ensures detection of both common and rare genetic variants with exceptional accuracy and reliability.
Who Should Consider This Genetic Test
This specialized cardiac genetic test is recommended for individuals experiencing:
- Family history of progressive heart block or sudden cardiac death
- Unexplained syncope or fainting episodes
- Abnormal electrocardiogram (ECG) findings suggesting conduction abnormalities
- Progressive PR interval prolongation on serial ECGs
- Bundle branch block or atrioventricular block without clear cause
- Personal history of pacemaker implantation at young age
- Suspected inherited cardiac conduction disorders
Clinical Indications
Patients with symptoms including dizziness, fatigue, exercise intolerance, palpitations, or documented heart rhythm abnormalities should strongly consider this genetic evaluation. Early identification of SCN5A mutations can significantly impact treatment decisions and family screening protocols.
Significant Benefits of SCN5A Genetic Testing
- Early Risk Identification: Detect genetic predisposition before symptoms manifest
- Personalized Treatment Planning: Guide appropriate medical interventions and device therapy
- Family Screening: Enable proactive testing for at-risk relatives
- Reproductive Counseling: Provide informed family planning decisions
- Preventive Care: Implement targeted monitoring and lifestyle modifications
- Peace of Mind: Reduce uncertainty through definitive genetic diagnosis
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results effectively:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic SCN5A mutation associated with progressive familial heart block type 1A. This finding enables:
- Implementation of specialized cardiac monitoring protocols
- Consideration of prophylactic pacemaker therapy when indicated
- Family member screening and genetic counseling
- Regular follow-up with cardiac electrophysiology specialists
Negative Result Interpretation
A negative result suggests the absence of known pathogenic SCN5A mutations, though continued clinical monitoring may still be recommended based on individual circumstances and family history.
Variant of Uncertain Significance
Some genetic changes may be classified as variants of uncertain significance, requiring additional family studies and ongoing research correlation for definitive interpretation.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
Before scheduling your SCN5A genetic test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Review of previous cardiac testing and evaluations
- Discussion of potential implications for family members
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified genetic counselors and cardiac specialists ensures comprehensive care coordination regardless of your location.
Take Control of Your Cardiac Health Today
Don’t wait for symptoms to progress. Early genetic identification of SCN5A mutations can be life-saving. Our experienced team of genetic counselors and cardiac specialists are ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your SCN5A genetic test consultation and take the first step toward proactive cardiac health management.
Booking your test is simple and confidential. Our dedicated patient coordinators will assist you with scheduling, insurance questions, and any concerns you may have about genetic testing for cardiac conditions.
