SOX18 Gene Hypotrichosis-Lymphedema-Telangiectasia Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Inherited Disorder
The SOX18 Gene Hypotrichosis-Lymphedema-Telangiectasia Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the SOX18 gene, which plays a crucial role in vascular and lymphatic development. This comprehensive genetic analysis provides definitive answers for individuals and families affected by this rare autosomal dominant condition characterized by distinctive clinical features affecting hair growth, lymphatic function, and blood vessel integrity.
What This Advanced Genetic Test Detects
Our NGS-based genetic test specifically targets the SOX18 gene, which encodes a transcription factor essential for proper development of blood vessels, lymphatic vessels, and hair follicles. The test identifies:
- Pathogenic variants in the SOX18 gene sequence
- Single nucleotide polymorphisms affecting gene function
- Insertion and deletion mutations disrupting protein structure
- Regulatory region abnormalities impacting gene expression
- Novel genetic variants with potential clinical significance
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This specialized genetic test is recommended for individuals presenting with:
- Congenital or early-onset sparse scalp hair (hypotrichosis)
- Persistent swelling in extremities due to lymphatic dysfunction
- Visible dilated blood vessels (telangiectasia) on skin surfaces
- Family history of similar dermatological and vascular symptoms
- Unexplained combination of hair, lymphatic, and vascular abnormalities
- Suspected autosomal dominant inheritance pattern in family medical history
Significant Benefits of Genetic Testing
Undergoing the SOX18 gene test provides numerous advantages for patients and healthcare providers:
- Definitive Diagnosis: Confirms or rules out SOX18-related disorder with high accuracy
- Personalized Management: Enables targeted treatment strategies based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management of symptoms before complications develop
- Research Contribution: Helps advance understanding of rare genetic conditions
- Psychological Relief: Reduces diagnostic uncertainty and provides clarity for affected families
Understanding Your Genetic Test Results
Interpretation Guidelines
Your genetic test report will include comprehensive interpretation of findings:
- Positive Result: Identification of pathogenic SOX18 mutation confirms diagnosis and enables targeted management
- Negative Result: Absence of detectable SOX18 mutations suggests alternative diagnoses should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for family members and genetic counseling
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
GGC DNA maintains comprehensive 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 network ensures accessible genetic testing services for patients throughout the country.
Take Action for Genetic Clarity
Don’t let diagnostic uncertainty delay proper management of potential SOX18-related symptoms. Our specialized genetic testing provides the answers you need for informed healthcare decisions. Contact our genetic counseling team today to schedule your comprehensive evaluation and take the first step toward genetic clarity and personalized care.
Book your SOX18 Gene Hypotrichosis-Lymphedema-Telangiectasia Syndrome NGS Genetic DNA Test today by calling our dedicated genetics hotline at +1(267) 388-9828 or schedule your appointment online through our secure patient portal.
