DSP Gene Cardiomyopathy Dilated with Woolly Hair and Keratoderma NGS Genetic DNA Test
Comprehensive Genetic Analysis for Hereditary Cardiac Conditions
The DSP Gene Cardiomyopathy Dilated with Woolly Hair and Keratoderma NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying inherited cardiovascular disorders. This specialized genetic examination focuses on detecting mutations in the Desmoplakin (DSP) gene, which plays a critical role in maintaining the structural integrity of cardiac muscle cells and skin tissues. The test utilizes advanced Next-Generation Sequencing (NGS) technology to provide comprehensive analysis of genetic variations associated with this rare but significant medical condition.
What This Test Measures and Detects
This sophisticated genetic test specifically targets and analyzes the DSP gene for pathogenic variants that cause:
- Dilated cardiomyopathy leading to heart muscle enlargement and reduced pumping efficiency
- Characteristic woolly hair texture abnormalities
- Palmoplantar keratoderma causing thickened skin on palms and soles
- Desmosomal protein dysfunction affecting cell-to-cell connections
- Inherited patterns of cardiac conduction abnormalities
The NGS technology employed in this test provides high-resolution sequencing of the entire DSP gene coding region, enabling detection of point mutations, small insertions, deletions, and other genetic variations that may contribute to disease development.
Who Should Consider This Genetic Test
This specialized genetic analysis is recommended for individuals experiencing:
- Unexplained cardiac symptoms including shortness of breath, fatigue, or palpitations
- Family history of dilated cardiomyopathy or sudden cardiac death
- Characteristic woolly hair texture present from birth
- Thickened, scaly skin on palms and soles (palmoplantar keratoderma)
- Abnormal electrocardiogram (ECG) findings without clear cause
- Unexplained heart enlargement detected through imaging studies
- Planning pregnancy with family history of cardiac genetic disorders
Clinical Benefits of Genetic Testing
Undergoing the DSP Gene Cardiomyopathy NGS Genetic DNA Test provides numerous clinical advantages:
- Early Diagnosis: Enables detection of genetic predisposition before symptom onset
- Personalized Treatment: Guides targeted therapeutic interventions and medication selection
- Family Planning: Provides crucial information for reproductive decision-making
- Risk Assessment: Identifies at-risk family members through cascade testing
- Preventive Care: Facilitates implementation of preventive cardiac monitoring
- Psychological Relief: Reduces uncertainty and anxiety through definitive diagnosis
Understanding Your Test Results
Test results are typically available within 3 to 4 weeks and are interpreted by our team of certified genetic counselors and cardiologists:
- Positive Result: Indicates presence of a pathogenic DSP gene mutation, confirming diagnosis and enabling proactive management
- Negative Result: Suggests absence of tested mutations, though does not completely rule out other genetic causes
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutation that could be passed to offspring
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Pricing and Sample Collection
| Test Component | Details |
|---|---|
| Test Name | DSP Gene Cardiomyopathy Dilated with Woolly Hair and Keratoderma 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 and Preparation
Before undergoing testing, patients should provide:
- Complete clinical history including cardiac symptoms and family medical background
- Participation in genetic counseling session to create detailed family pedigree chart
- Documentation of affected family members with similar symptoms or diagnoses
- Current cardiac evaluation results including ECG, echocardiogram, or other relevant tests
Nationwide Accessibility and Booking
General Genetics Corporation maintains testing facilities across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our comprehensive network ensures accessible genetic testing services for patients throughout the country.
Ready to take control of your cardiac health? Schedule your DSP Gene Cardiomyopathy NGS Genetic DNA Test today by calling our dedicated genetic counseling team at +1(267) 388-9828 or booking your appointment online through our secure patient portal. Our experienced specialists are available to answer your questions and guide you through the testing process with compassion and expertise.
