EDARADD Gene Ectodermal Dysplasia Hypohidrotic Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Testing for Hypohidrotic Ectodermal Dysplasia
The EDARADD Gene Ectodermal Dysplasia Hypohidrotic Autosomal Recessive NGS Genetic DNA Test represents a cutting-edge diagnostic solution for individuals suspected of having hypohidrotic ectodermal dysplasia (HED). This specialized genetic test utilizes advanced Next-Generation Sequencing technology to identify mutations in the EDARADD gene, which plays a critical role in ectodermal development and function.
What Does This Test Measure and Detect?
Our comprehensive NGS genetic test specifically targets the EDARADD gene to identify pathogenic variants associated with autosomal recessive hypohidrotic ectodermal dysplasia. The test detects:
- Point mutations, insertions, and deletions in the EDARADD gene
- Autosomal recessive inheritance patterns
- Variants affecting ectodysplasin-A receptor-associated adapter protein function
- Mutations impacting NF-kappaB signaling pathway
- Genetic alterations responsible for impaired sweat gland development
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with characteristic symptoms of hypohidrotic ectodermal dysplasia, including:
- Reduced or absent sweating (hypohidrosis)
- Sparse scalp and body hair (hypotrichosis)
- Missing or malformed teeth (hypodontia)
- Heat intolerance due to impaired thermoregulation
- Dry skin and eczema-like conditions
- Family history of ectodermal dysplasia
- Consanguineous parentage with similar symptoms
Clinical Benefits of EDARADD Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out EDARADD-related hypohidrotic ectodermal dysplasia
- Genetic Counseling: Enables informed family planning decisions
- Personalized Management: Guides appropriate dermatological and dental care
- Early Intervention: Facilitates proactive management of heat-related complications
- Carrier Detection: Identifies asymptomatic carriers within families
- Differential Diagnosis: Distinguishes from other forms of ectodermal dysplasia
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your EDARADD gene test results:
- Positive Result: Indicates pathogenic mutations in EDARADD gene confirming diagnosis
- Negative Result: Suggests absence of detectable EDARADD mutations
- Variant of Uncertain Significance: Requires additional family studies for clarification
- Carrier Status: Identifies individuals with single mutation copy
All results include detailed genetic counseling to help you understand implications and next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | EDARADD Gene Ectodermal Dysplasia Hypohidrotic Autosomal Recessive 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
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session for pedigree analysis
- Family history assessment of affected members
- Understanding of autosomal recessive inheritance patterns
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about ectodermal dysplasia symptoms affect your quality of life. Our specialized EDARADD genetic testing provides the answers you need for proper diagnosis and management. Our genetic counselors are available to discuss your concerns and guide you through the testing process.
Call us today at +1(267) 388-9828 to schedule your EDARADD genetic test or to speak with our genetic specialists. Take control of your genetic health with comprehensive, accurate testing from America’s leading genetics laboratory.
