TNNI3 Gene Cardiomyopathy Familial Restrictive Type 1 NGS Genetic DNA Test
Understanding TNNI3 Gene Cardiomyopathy
The TNNI3 Gene Cardiomyopathy Familial Restrictive Type 1 NGS Genetic DNA Test represents a breakthrough in cardiac genetic diagnostics. This advanced test specifically targets mutations in the TNNI3 gene, which encodes cardiac troponin I – a crucial protein regulating heart muscle contraction and relaxation. Familial restrictive cardiomyopathy type 1 is a rare inherited condition characterized by abnormal stiffness of the heart muscle, leading to impaired ventricular filling and reduced cardiac output.
What Does This Test Measure?
Our comprehensive NGS genetic analysis detects specific mutations in the TNNI3 gene that are known to cause familial restrictive cardiomyopathy type 1. The test examines:
- Complete TNNI3 gene sequencing for point mutations
- Detection of known pathogenic variants associated with restrictive cardiomyopathy
- Identification of novel genetic variations with clinical significance
- Assessment of mutation impact on cardiac troponin I function
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Unexplained heart failure symptoms including shortness of breath and fatigue
- Family history of restrictive cardiomyopathy or sudden cardiac death
- Abnormal echocardiogram findings showing diastolic dysfunction
- Unexplained atrial fibrillation or arrhythmias
- Elevated cardiac biomarkers without clear coronary artery disease
- Progressive exercise intolerance with normal systolic function
Clinical Indications and Symptoms
Patients presenting with the following symptoms should consider genetic testing:
- Progressive dyspnea on exertion
- Peripheral edema and abdominal swelling
- Palpitations and irregular heart rhythms
- Fatigue and reduced exercise capacity
- Syncope or near-syncope episodes
- Family members diagnosed with restrictive cardiomyopathy
Benefits of Genetic Testing
Early detection through genetic testing provides numerous advantages:
- Early Intervention: Enables proactive management before significant symptoms develop
- Family Screening: Identifies at-risk family members for preventive care
- Personalized Treatment: Guides targeted therapy based on genetic profile
- Reproductive Planning: Informs family planning decisions
- Prognostic Information: Provides insight into disease progression and outcomes
- Reduced Diagnostic Uncertainty: Confirms diagnosis and eliminates unnecessary testing
Understanding Your Test Results
Our comprehensive genetic counseling helps you interpret your results:
Positive Result
A positive result indicates the presence of a pathogenic TNNI3 gene mutation. This confirms the diagnosis of familial restrictive cardiomyopathy type 1 and enables:
- Implementation of targeted medical therapy
- Regular cardiac monitoring and surveillance
- Family member screening and genetic counseling
- Lifestyle modifications and activity recommendations
Negative Result
A negative result suggests no detectable TNNI3 mutation, significantly reducing the likelihood of inherited restrictive cardiomyopathy. However, continued clinical monitoring may be recommended based on individual circumstances.
Variant of Uncertain Significance
Some genetic variations may have unknown clinical implications. Our genetic counselors provide ongoing support and may recommend additional family studies to clarify significance.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | TNNI3 Gene Cardiomyopathy Familial Restrictive Type 1 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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) Technology |
| Specialty | Cardiology and Genetics |
Pre-Test Requirements
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications and potential outcomes
- Informed consent process
Nationwide 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 ensures accessible genetic testing services for patients nationwide.
Take Control of Your Cardiac Health
Don’t wait for symptoms to progress. Early genetic detection of TNNI3 cardiomyopathy can significantly impact your long-term cardiac health and quality of life. Our team of board-certified cardiologists and genetic counselors are ready to guide you through the testing process and provide comprehensive post-test support.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your TNNI3 Gene Cardiomyopathy test. Take the first step toward understanding your genetic cardiac risk and protecting your heart health for years to come.
