TMEM43 Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 NGS Genetic DNA Test
Understanding TMEM43 Gene ARVC5 Testing
The TMEM43 Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 NGS Genetic DNA Test represents a breakthrough in cardiovascular genetic diagnostics. This advanced test specifically targets mutations in the TMEM43 gene, which are responsible for Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 (ARVC5), a serious inherited cardiac condition that can lead to life-threatening arrhythmias and sudden cardiac death.
What Does This Test Detect?
This comprehensive genetic analysis utilizes Next-Generation Sequencing (NGS) technology to identify pathogenic variants in the TMEM43 gene. The test examines:
- Complete coding regions of the TMEM43 gene
- Known pathogenic mutations associated with ARVC5
- Novel variants that may impact protein function
- Genetic markers linked to disease progression
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing or at risk for:
- Unexplained palpitations or irregular heart rhythms
- Family history of sudden cardiac death
- Diagnosed cardiomyopathy without clear cause
- Abnormal ECG findings suggestive of ARVC
- Syncope (fainting spells) of unknown origin
- Right ventricular enlargement or dysfunction
- Family members of individuals with confirmed TMEM43 mutations
Clinical Benefits of TMEM43 Genetic Testing
Early detection through genetic testing provides numerous advantages:
- Proactive Management: Enables early intervention and monitoring strategies
- Family Screening: Identifies at-risk relatives before symptoms appear
- Personalized Treatment: Guides medication choices and lifestyle modifications
- Risk Stratification: Helps determine appropriate levels of cardiac monitoring
- Reproductive Planning: Informs family planning decisions
- Peace of Mind: Provides clarity for individuals with family history
Understanding Your Test Results
Your genetic test results will fall into one of several categories:
- Positive Result: Indicates the presence of a known pathogenic TMEM43 mutation. This confirms ARVC5 diagnosis and requires comprehensive cardiac evaluation and management.
- Negative Result: No pathogenic mutations detected. However, clinical monitoring may still be recommended based on family history and symptoms.
- Variant of Uncertain Significance (VUS): A genetic change with unknown clinical impact. Additional family testing and research may be needed.
- Benign Variant: Genetic changes not associated with disease risk.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | TMEM43 Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 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) |
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history including cardiac symptoms and family medical background
- Participation in a genetic counseling session to create a detailed family pedigree
- Documentation of any previous cardiac testing or diagnoses
- Informed consent for genetic testing and result interpretation
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 cardiologists ensures comprehensive care regardless of your location.
Take Control of Your Cardiac Health Today
Don’t wait for symptoms to appear. Early genetic testing for TMEM43 mutations can provide critical information for managing your cardiac health and protecting your family. Our team of genetic specialists and cardiologists are ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your TMEM43 genetic test and take the first step toward proactive cardiac care.
