CDH3 Gene Ectodermal Dysplasia Ectrodactyly and Macular Dystrophy NGS Genetic DNA Test
Comprehensive Genetic Testing for Complex Inherited Conditions
The CDH3 Gene NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for individuals affected by complex inherited disorders involving multiple body systems. This sophisticated genetic analysis specifically targets the CDH3 gene, which encodes cadherin-3, a crucial protein involved in cell adhesion and tissue development. When mutations occur in this gene, they can lead to a constellation of symptoms affecting ectodermal tissues, limb formation, and retinal health.
What This Advanced Genetic Test Detects
Our state-of-the-art Next Generation Sequencing (NGS) technology comprehensively analyzes the entire CDH3 gene to identify pathogenic variants responsible for:
- Ectodermal Dysplasia: Abnormal development of skin, hair, nails, and teeth
- Ectrodactyly: Split hand/foot malformations and limb abnormalities
- Macular Dystrophy: Progressive vision loss due to retinal degeneration
- Complex Syndromic Presentations: Combined manifestations affecting multiple organ systems
Who Should Consider CDH3 Genetic Testing?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with one or more of the following symptoms:
- Skin and Hair Abnormalities: Thin, sparse hair; abnormal sweating; dry, scaly skin; missing or malformed teeth
- Limb Malformations: Split hand or foot deformities (ectrodactyly), missing digits, or syndactyly
- Vision Problems: Progressive vision loss, difficulty with central vision, macular degeneration symptoms
- Family History: Known CDH3 mutations in family members or similar symptoms in relatives
- Unexplained Multi-system Symptoms: Combinations of skin, limb, and vision abnormalities without clear diagnosis
Significant Benefits of CDH3 Genetic Testing
Transformative Diagnostic and Management Advantages
- Definitive Diagnosis: Provides conclusive genetic confirmation of CDH3-related disorders
- Personalized Treatment Planning: Enables targeted interventions for specific symptoms and complications
- Family Planning Guidance: Offers crucial information for reproductive decisions and genetic counseling
- Early Intervention Opportunities: Facilitates proactive management of vision and developmental issues
- Comprehensive Care Coordination: Connects patients with appropriate specialists including dermatologists, ophthalmologists, and geneticists
Understanding Your Test Results
Interpretation and Next Steps
Your CDH3 genetic test results will fall into one of several categories, each with specific implications:
- Positive Result: Identifies a pathogenic mutation in the CDH3 gene, confirming the genetic basis of symptoms and enabling targeted management strategies
- Negative Result: No CDH3 mutations detected, suggesting symptoms may be due to other genetic or environmental factors
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but may not show symptoms
All results are accompanied by comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CDH3 Gene Ectodermal Dysplasia Ectrodactyly and Macular Dystrophy 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 |
Pre-Test Requirements and Preparation
Essential Information for Accurate Testing
To ensure the most accurate and meaningful results, please provide:
- Complete Clinical History: Detailed medical background of symptoms and previous evaluations
- Genetic Counseling Session: Pre-test consultation to discuss implications and create family pedigree
- Family Medical History: Information about affected family members and inheritance patterns
- Specialist Referrals: Documentation from dermatologists, ophthalmologists, or other relevant specialists
Nationwide Accessibility and Convenience
General Genetics Corporation maintains testing facilities across the United States, ensuring convenient access to this advanced genetic testing in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and medical professionals provides comprehensive support throughout the testing process.
Take the Next Step Toward Clarity
If you or a loved one are experiencing symptoms suggestive of CDH3-related disorders, don’t wait to get answers. Our specialized genetic testing provides the clarity needed for proper diagnosis and management. Contact our genetic counseling team today to schedule your test and begin your journey toward understanding and managing these complex conditions.
Call or WhatsApp our genetic specialists at +1(267) 388-9828 to book your CDH3 genetic test today. Our team is ready to answer your questions, provide detailed information about the testing process, and help you take the first step toward genetic clarity and improved health management.
