ECM1 Gene Urbach-Wiethe Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Lipoid Proteinosis
The ECM1 Gene Urbach-Wiethe Disease NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic disorders. This advanced next-generation sequencing test specifically targets mutations in the ECM1 (extracellular matrix protein 1) gene, which is responsible for Urbach-Wiethe disease, also known as lipoid proteinosis. This rare autosomal recessive condition affects multiple body systems and requires precise genetic confirmation for accurate diagnosis and management.
What Does This Test Measure and Detect?
Our comprehensive NGS genetic test analyzes the entire coding region of the ECM1 gene to identify pathogenic variants that cause Urbach-Wiethe disease. The test detects:
- Point mutations in the ECM1 gene
- Small insertions and deletions
- Copy number variations
- Pathogenic variants affecting protein function
- Both homozygous and compound heterozygous mutations
The ECM1 gene encodes a protein crucial for maintaining the structural integrity of basement membranes in skin, blood vessels, and other tissues. Mutations disrupt this function, leading to the characteristic symptoms of lipoid proteinosis.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with:
- Progressive hoarseness beginning in infancy or early childhood
- Skin abnormalities including papules, nodules, and scarring
- Mucous membrane involvement affecting oral cavity and eyes
- Neurological symptoms such as epilepsy or cognitive changes
- Family history of Urbach-Wiethe disease
- Unexplained calcifications in temporal lobes on brain imaging
- Recurrent skin infections or healing difficulties
Clinical Benefits of Genetic Testing
Undergoing the ECM1 gene test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Urbach-Wiethe disease with high precision
- Early Intervention: Enables proactive management of symptoms and complications
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides appropriate treatment strategies based on genetic findings
- Disease Monitoring: Helps track disease progression and response to interventions
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our genetic counselors provide comprehensive interpretation of your results:
- Positive Result: Identifies pathogenic ECM1 mutations confirming Urbach-Wiethe disease diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results include detailed explanations and recommendations for next steps, including specialist referrals and management strategies.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | ECM1 Gene Urbach-Wiethe Disease 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) |
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including 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 regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our ECM1 Gene Urbach-Wiethe Disease NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With our discounted price of $500 and comprehensive genetic counseling support, you can access world-class genetic diagnostics with confidence.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward genetic clarity and personalized healthcare management.
Our team of genetic specialists is ready to guide you through the testing process, from pre-test counseling to result interpretation and ongoing support. Early genetic diagnosis can significantly impact disease management and quality of life outcomes.
