TWIST1 Gene Craniosynostosis Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Craniosynostosis
The TWIST1 Gene Craniosynostosis Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with Saethre-Chotzen syndrome, a rare autosomal dominant disorder affecting cranial development. This specialized test utilizes Next Generation Sequencing technology to provide comprehensive analysis of the TWIST1 gene, which plays a crucial role in embryonic development and cranial bone formation.
What Does This Test Measure?
This advanced genetic test specifically targets and analyzes the TWIST1 gene located on chromosome 7p21.1. The test detects:
- Point mutations in the TWIST1 gene coding regions
- Small insertions and deletions affecting gene function
- Genetic variants associated with craniosynostosis type 1
- Mutations responsible for Saethre-Chotzen syndrome development
Who Should Consider This Test?
This genetic analysis is recommended for individuals presenting with:
- Abnormal skull shape or premature cranial suture fusion
- Facial asymmetry or craniofacial abnormalities
- Drooping eyelids (ptosis) or low-set ears
- Family history of craniosynostosis or Saethre-Chotzen syndrome
- Developmental delays associated with cranial abnormalities
- Multiple affected family members with similar symptoms
Clinical Benefits of Genetic Testing
Undergoing the TWIST1 Gene Craniosynostosis Type 1 NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out genetic causes of craniosynostosis
- Treatment Planning: Guides appropriate surgical interventions and management strategies
- Genetic Counseling: Enables informed family planning decisions
- Early Intervention: Facilitates timely treatment to prevent complications
- Family Risk Assessment: Identifies at-risk relatives for proactive monitoring
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists:
- Positive Result: Indicates the presence of a TWIST1 gene mutation associated with craniosynostosis type 1
- Negative Result: Suggests no detectable mutation in the analyzed regions of the TWIST1 gene
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
All results include comprehensive genetic counseling to ensure proper understanding and next steps.
Test Pricing Information
| Price Type | Amount (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 metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Schedule Your Genetic Test Today
Take the first step toward understanding your genetic health. Our experienced genetic counselors and medical professionals are ready to assist you with comprehensive testing and personalized care.
Call or WhatsApp us today at +1(267) 388-9828 to book your TWIST1 Gene Craniosynostosis Type 1 NGS Genetic DNA Test and receive professional genetic counseling.
Turnaround Time: 3-4 Weeks | Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
