TWIST1 Gene Robinow-Sorauf Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Craniofacial Disorders
The TWIST1 Gene Robinow-Sorauf Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with Robinow-Sorauf syndrome. This rare genetic disorder falls under the category of craniosynostosis syndromes and requires precise genetic analysis for accurate diagnosis and management. Our advanced next-generation sequencing technology provides comprehensive evaluation of the TWIST1 gene, enabling healthcare providers to make informed decisions about patient care and family planning.
What This Test Measures and Detects
This specialized genetic test specifically targets the TWIST1 gene, which plays a critical role in embryonic development and bone formation. The test identifies:
- Point mutations and small insertions/deletions in the TWIST1 gene
- Genetic variations associated with craniosynostosis development
- Mutations linked to facial dysmorphism and digital abnormalities
- Inherited and de novo genetic changes affecting cranial suture fusion
- Specific nucleotide changes that disrupt normal protein function
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with the following clinical features:
- Infants and children with premature fusion of cranial sutures (craniosynostosis)
- Patients exhibiting facial asymmetry or abnormal skull shape
- Individuals with syndactyly (fused fingers or toes) or other digital anomalies
- Those with family history of Robinow-Sorauf syndrome or related craniofacial disorders
- Patients with developmental delays associated with craniofacial abnormalities
- Individuals requiring differential diagnosis between various craniosynostosis syndromes
Key Benefits of TWIST1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Robinow-Sorauf syndrome with high precision
- Treatment Guidance: Informs surgical planning and medical management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Enables timely medical and surgical interventions for optimal outcomes
- Comprehensive Analysis: Utilizes advanced NGS technology for thorough genetic evaluation
- Expert Support: Includes pre-test genetic counseling to ensure informed decision-making
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Indicates the presence of a TWIST1 gene mutation associated with Robinow-Sorauf syndrome, requiring specialized medical follow-up
- Negative Result: Suggests the absence of detectable mutations in the TWIST1 gene, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring additional family studies or research correlation
- Professional Consultation: All results include detailed explanation and recommendations from our genetic counseling team
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | TWIST1 Gene Robinow-Sorauf Syndrome 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 |
Nationwide Testing Availability
We proudly offer 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, and San Jose. Our network of certified genetic counselors and medical professionals ensures you receive expert care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our TWIST1 Gene Robinow-Sorauf Syndrome NGS Genetic DNA Test provides the answers you need for informed medical decisions and family planning. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic testing with confidence.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated team is ready to guide you through every step of the testing process and provide the clarity you deserve.
