SOX10 Gene Waardenburg Syndrome Type 2E NGS Genetic DNA Test
Comprehensive Genetic Analysis for Waardenburg Syndrome
The SOX10 Gene Waardenburg Syndrome Type 2E NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals and families affected by hearing loss and pigmentation disorders. This advanced molecular test specifically targets the SOX10 gene, which plays a critical role in the development of neural crest cells during embryonic development. Mutations in this gene are directly linked to Waardenburg Syndrome Type 2E, a rare genetic condition characterized by distinctive physical features and sensory impairments.
What Does This Test Measure?
Our comprehensive NGS-based genetic test precisely identifies mutations and variations in the SOX10 gene that are responsible for Waardenburg Syndrome Type 2E. The test examines:
- Point mutations affecting SOX10 gene function
- Deletions and insertions within the gene sequence
- Regulatory region variations impacting gene expression
- Complex genetic rearrangements affecting neural crest development
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with one or more of the following symptoms or family history patterns:
- Congenital sensorineural hearing loss or deafness
- Heterochromia iridis (different colored eyes)
- Pigmentation abnormalities including white forelock or premature graying
- Bright blue eyes or hypopigmented skin patches
- Family history of Waardenburg syndrome or related conditions
- Neurological symptoms including developmental delays
- Hirschsprung disease in combination with hearing or pigmentation issues
Clinical Benefits of Genetic Testing
Undergoing the SOX10 Gene Waardenburg Syndrome Type 2E NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Waardenburg Syndrome Type 2E with high precision
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Personalized Management: Guides appropriate hearing interventions and medical monitoring
- Early Intervention: Facilitates timely support for developmental and educational needs
- Genetic Counseling: Provides comprehensive risk assessment for family members
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your SOX10 gene analysis results:
- Positive Result: Indicates the presence of a pathogenic mutation in the SOX10 gene, confirming Waardenburg Syndrome Type 2E diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation with symptoms is essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SOX10 Gene Waardenburg Syndrome Type 2E NGS Genetic DNA Test | $500 USD | $700 USD |
Test Specifications
- 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
- Specialty: Dermatology, Genetics, Neurology
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Scheduled genetic counseling session
- Prepared pedigree chart of family members affected by related symptoms
- Documentation of current symptoms and medical concerns
Nationwide Accessibility
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 network of certified genetic counselors and medical professionals ensures you receive comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your quality of life. Our SOX10 Gene Waardenburg Syndrome Type 2E NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With our discounted price of $500 USD (regularly $700), advanced NGS technology, and comprehensive genetic counseling support, you can gain valuable insights into your genetic health.
Ready to schedule your test? Call our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take control of your genetic health with confidence and clarity.
