SOX10 Gene Waardenburg Syndrome Type 4C NGS Genetic DNA Test
Comprehensive Genetic Analysis for Neurocristopathy Disorders
The SOX10 Gene Waardenburg Syndrome Type 4C NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the SOX10 gene, which plays a critical role in neural crest cell development and differentiation. This specialized genetic test provides definitive answers for individuals and families affected by complex neurocristopathy disorders characterized by combined features of hearing loss, pigmentation abnormalities, and gastrointestinal dysfunction.
What Does This Test Measure and Detect?
This advanced genetic screening utilizes Next Generation Sequencing (NGS) technology to comprehensively analyze the SOX10 gene for pathogenic variants, including:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Regulatory region abnormalities
- Novel mutations affecting gene function
The SOX10 gene encodes a transcription factor essential for the development of melanocytes, enteric neurons, and glial cells. Mutations in this gene disrupt normal neural crest cell migration and differentiation, leading to the characteristic features of Waardenburg syndrome type 4C and related conditions.
Who Should Consider This Genetic Test?
This comprehensive genetic analysis is recommended for individuals presenting with one or more of the following clinical features:
- Congenital sensorineural hearing loss – Unilateral or bilateral hearing impairment present from birth
- Pigmentation abnormalities – Heterochromia iridis (different colored eyes), brilliant blue eyes, white forelock, or premature graying
- Gastrointestinal symptoms – Chronic constipation, abdominal distension, or feeding difficulties suggestive of Hirschsprung disease
- Neurological manifestations – Peripheral neuropathy, developmental delay, or autonomic dysfunction
- Family history – Known SOX10 mutations or similar clinical features in family members
- Unexplained combination – Any combination of hearing, pigmentation, and gastrointestinal symptoms without clear diagnosis
Clinical Benefits of SOX10 Genetic Testing
Undergoing SOX10 genetic testing provides numerous clinical advantages for patients and their families:
- Accurate Diagnosis – Confirms or rules out Waardenburg syndrome type 4C and related neurocristopathy disorders
- Personalized Management – Enables targeted medical interventions based on specific genetic findings
- Family Planning Guidance – Provides recurrence risk information for future pregnancies
- Early Intervention – Facilitates timely implementation of hearing aids, speech therapy, and gastrointestinal management
- Comprehensive Care Coordination – Connects patients with appropriate specialists including audiologists, gastroenterologists, and genetic counselors
- Psychological Relief – Reduces diagnostic uncertainty and provides clarity for affected individuals and families
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret and understand your SOX10 test results:
- Positive Result – Identification of a pathogenic SOX10 mutation confirms the diagnosis and enables targeted management strategies
- Negative Result – Absence of detectable SOX10 mutations suggests alternative genetic or non-genetic causes for clinical symptoms
- Variant of Uncertain Significance – Some genetic changes require additional family studies or functional analysis for proper interpretation
- Carrier Status – Identifies individuals who carry one copy of a mutated gene but may not show symptoms
All results are accompanied by detailed explanations and recommendations from our board-certified genetic counselors to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or Blood on FTA Card |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection centers ensures accessible testing for patients nationwide.
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 4C NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. Our experienced genetic counselors are available to discuss your specific situation and guide you through the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take control of your genetic health with comprehensive, accurate testing from trusted genetic specialists.
