CACNB2 Gene Brugada Syndrome Type 4 NGS Genetic DNA Test
Understanding Brugada Syndrome and the CACNB2 Gene
Brugada syndrome is a serious inherited cardiac condition characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. The CACNB2 Gene Brugada Syndrome Type 4 NGS Genetic DNA Test specifically targets mutations in the CACNB2 gene, which encodes the beta-2 subunit of voltage-gated calcium channels. These channels play a crucial role in regulating calcium ion flow in cardiac cells, essential for maintaining normal heart rhythm and contraction.
When mutations occur in the CACNB2 gene, they can disrupt calcium channel function, leading to electrical instability in the heart. This disruption manifests as Brugada syndrome type 4, a specific genetic subtype that follows an autosomal dominant inheritance pattern. Understanding your genetic risk through this advanced testing can provide critical insights for managing your cardiac health and preventing potentially fatal arrhythmias.
What the Test Detects and Measures
The CACNB2 Gene Brugada Syndrome Type 4 NGS Genetic DNA Test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the entire CACNB2 gene. This sophisticated approach enables detection of:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting gene expression
- Pathogenic variants disrupting calcium channel function
The test specifically examines genetic alterations that affect the beta-2 subunit’s ability to regulate L-type calcium channels in cardiac cells. These channels are vital for maintaining proper action potential duration and cardiac repolarization, making their dysfunction particularly dangerous for heart rhythm stability.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals experiencing or with family history of:
- Unexplained syncope or fainting episodes
- Family history of sudden cardiac death, especially in young individuals
- Abnormal ECG patterns consistent with Brugada syndrome
- Documented ventricular arrhythmias without structural heart disease
- First-degree relatives diagnosed with Brugada syndrome
- Recurrent palpitations or dizziness of unknown origin
- Previous cardiac arrest with no identifiable cause
High-Risk Populations
Individuals of Southeast Asian descent, particularly males between 30-50 years old, should consider testing due to higher prevalence rates. Those with a family history of unexplained nocturnal deaths or sudden infant death syndrome (SIDS) may also benefit from genetic screening.
Benefits of CACNB2 Genetic Testing
Undergoing the CACNB2 Gene Brugada Syndrome Type 4 NGS Genetic DNA Test provides numerous advantages for patients and their families:
- Early Risk Identification: Detect genetic predisposition before symptoms manifest
- Family Screening: Enable targeted testing for at-risk relatives
- Personalized Management: Guide appropriate medical interventions and lifestyle modifications
- Reproductive Planning: Inform family planning decisions with genetic counseling
- Peace of Mind: Provide clarity and reduce anxiety about cardiac health
- Preventive Strategies: Implement measures to reduce sudden cardiac death risk
Understanding Your Test Results
Possible Outcomes and Their Meanings
Your genetic test results will fall into one of several categories, each with specific implications:
- Positive Result: A pathogenic variant in the CACNB2 gene is identified, confirming Brugada syndrome type 4 diagnosis. This requires immediate cardiology consultation for comprehensive risk assessment and management planning.
- Negative Result: No pathogenic variants detected in the CACNB2 gene. However, this does not completely rule out Brugada syndrome, as other genetic causes may be responsible.
- Variant of Uncertain Significance (VUS): A genetic change is identified, but its clinical significance is unknown. Regular follow-up and family studies may be recommended.
- Benign Variant: Genetic changes that are not associated with disease risk and considered normal population variations.
Post-Test Recommendations
All results should be discussed with a qualified cardiologist and genetic counselor who can provide personalized interpretation and management recommendations based on your specific genetic findings, family history, and clinical presentation.
Test Pricing and Availability
| 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 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients throughout the country.
Take Control of Your Cardiac Health Today
Don’t wait for symptoms to appear before addressing your genetic cardiac risk. The CACNB2 Gene Brugada Syndrome Type 4 NGS Genetic DNA Test provides the advanced genetic insight needed to protect your heart health and potentially save lives. Our experienced team of cardiologists and genetic 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 genetic test consultation and take the first step toward comprehensive cardiac risk assessment.
Early detection through genetic testing can make the difference between life and death for individuals at risk of Brugada syndrome. Invest in your cardiac future with our state-of-the-art NGS genetic testing technology.
