EDAR Gene Ectodermal Dysplasia Hypohidrotic Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Analysis for Ectodermal Dysplasia
The EDAR Gene Ectodermal Dysplasia Hypohidrotic Autosomal Recessive NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare ectodermal disorders. This advanced test specifically targets mutations in the EDAR (Ectodysplasin A Receptor) gene, which plays a critical role in the development of ectodermal tissues including hair, teeth, nails, and sweat glands. Using cutting-edge Next-Generation Sequencing (NGS) technology, our test provides unparalleled accuracy in detecting autosomal recessive inheritance patterns of hypohidrotic ectodermal dysplasia.
What This Test Measures and Detects
This comprehensive genetic analysis focuses on identifying pathogenic variants in the EDAR gene that cause hypohidrotic ectodermal dysplasia (HED). The test examines:
- Complete sequencing of the EDAR gene coding regions
- Detection of point mutations, insertions, and deletions
- Autosomal recessive inheritance pattern confirmation
- Variant classification according to ACMG guidelines
- Carrier status determination for family members
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with characteristic symptoms of hypohidrotic ectodermal dysplasia, including:
- Sparse, thin, or absent scalp and body hair
- Missing or abnormally shaped teeth (hypodontia)
- Reduced ability to sweat (hypohidrosis)
- Heat intolerance and frequent fevers
- Dry skin and eczema-like conditions
- Distinctive facial features including prominent forehead and lips
- Family history of ectodermal dysplasia
- Unexplained developmental abnormalities in children
Significant Benefits of Genetic Testing
Undergoing the EDAR gene test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out hypohidrotic ectodermal dysplasia with high precision
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Early Intervention: Facilitates timely management of symptoms and complications
- Personalized Care: Guides appropriate dental, dermatological, and medical treatments
- Carrier Detection: Identifies asymptomatic carriers within families
- Peace of Mind: Provides clarity and reduces diagnostic uncertainty
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates the presence of pathogenic EDAR gene mutations confirming diagnosis
- Negative Result: Suggests absence of tested mutations but doesn’t rule out other genetic causes
- Variant of Uncertain Significance: Requires additional family studies for clarification
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results are accompanied by genetic counseling recommendations and clinical management guidance.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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, San Jose, and many more. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your quality of life. Our EDAR Gene Ectodermal Dysplasia Hypohidrotic Autosomal Recessive NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Ready to schedule your genetic test? Call or WhatsApp us today at +1(267) 388-9828 to book your appointment and take control of your genetic health journey.
