DSP Gene Dilated Cardiomyopathy with Woolly Hair Keratoderma and Tooth Agenesis NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Cardiovascular Disorder
The DSP Gene Dilated Cardiomyopathy with Woolly Hair Keratoderma and Tooth Agenesis NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing this rare genetic condition. This advanced diagnostic tool utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the DSP (Desmoplakin) gene, which plays a critical role in maintaining the structural integrity of cardiac muscle cells and epithelial tissues.
What This Test Measures and Detects
This comprehensive genetic test specifically targets and analyzes the DSP gene for pathogenic variants that cause:
- Dilated cardiomyopathy leading to heart muscle weakness
- Characteristic woolly hair texture abnormalities
- Palmoplantar keratoderma (thickened skin on palms and soles)
- Tooth agenesis (missing permanent teeth)
- Various mutations including missense, nonsense, frameshift, and splice site variants
- Inheritance patterns (autosomal dominant or recessive)
Who Should Consider This Genetic Test
This test is recommended for individuals experiencing:
- Unexplained heart failure symptoms at a young age
- Family history of dilated cardiomyopathy or sudden cardiac death
- Characteristic woolly hair texture since birth
- Thickened skin on palms and soles (keratoderma)
- Missing permanent teeth without other explanations
- Multiple family members with similar symptoms
- Unexplained arrhythmias or cardiac abnormalities
Clinical Benefits of Genetic Testing
Early detection through genetic testing provides numerous advantages:
- Enables proactive cardiac monitoring and management
- Facilitates early intervention to prevent heart failure progression
- Guides personalized treatment strategies based on genetic profile
- Provides crucial information for family planning decisions
- Allows for cascade testing of at-risk family members
- Reduces diagnostic uncertainty and unnecessary testing
- Improves long-term cardiovascular outcomes through targeted care
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and cardiologists:
- Positive Result: Indicates a pathogenic mutation in the DSP gene, confirming diagnosis and enabling targeted management
- Negative Result: Suggests no DSP gene mutation detected, though other genetic causes may need consideration
- Variant of Uncertain Significance (VUS): Requires additional family studies and ongoing research correlation
- All results include comprehensive genetic counseling to ensure proper understanding and next steps
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | DSP Gene Dilated Cardiomyopathy with Woolly Hair Keratoderma and Tooth Agenesis 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 |
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Cardiac evaluation by a cardiologist
- Discussion of testing implications and potential outcomes
- Informed consent process
Nationwide Accessibility
We have conveniently located branches across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network ensures accessible genetic testing services for patients nationwide.
Take Control of Your Cardiovascular Health
Early genetic testing can be life-saving for individuals at risk of DSP-related cardiomyopathy. Our comprehensive approach combines advanced NGS technology with expert genetic counseling to provide you with the most accurate and actionable genetic information.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic risk and protecting your heart health.
