IRF6 Gene Van der Woude Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Cleft Lip and Palate Disorders
The IRF6 Gene Van der Woude Syndrome Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for congenital facial abnormalities. This advanced test specifically targets the IRF6 (Interferon Regulatory Factor 6) gene, which plays a crucial role in craniofacial development during embryonic growth. Mutations in this gene are the primary cause of Van der Woude syndrome, the most common form of syndromic cleft lip and palate, accounting for approximately 2% of all cleft cases worldwide.
What This Test Measures and Detects
Our comprehensive NGS-based genetic analysis examines the entire IRF6 gene sequence to identify pathogenic variants including:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Missense, nonsense, and frameshift mutations
- Splice site alterations affecting gene function
- Regulatory region variants impacting gene expression
The test provides complete coverage of all coding exons and flanking intronic regions of the IRF6 gene, ensuring comprehensive detection of mutations responsible for Van der Woude syndrome type 1.
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with:
- Cleft lip with or without cleft palate
- Isolated cleft palate
- Characteristic lower lip pits or mounds
- Family history of cleft lip/palate conditions
- Unexplained congenital facial abnormalities
- Parents planning pregnancy with family history of cleft disorders
- Individuals with suspected Van der Woude syndrome features
Clinical Benefits of IRF6 Genetic Testing
Undergoing IRF6 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Van der Woude syndrome type 1 with high precision
- Family Planning Guidance: Provides recurrence risk information for future pregnancies
- Treatment Planning: Helps medical teams develop comprehensive care strategies
- Early Intervention: Enables proactive management of associated health concerns
- Genetic Counseling: Supports informed decision-making for affected families
- Research Contribution: Advances understanding of craniofacial development disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Identifies a pathogenic mutation in the IRF6 gene, confirming Van der Woude syndrome diagnosis
- Negative Result: No mutation detected, suggesting other genetic or environmental factors may be involved
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry the mutation without showing symptoms
All results include detailed explanations and recommendations for next steps, with genetic counseling available to help you understand the implications for your health and family.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | IRF6 Gene Van der Woude Syndrome Type 1 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 have diagnostic centers conveniently located across the United States, serving 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 ensures accessible genetic testing services for patients nationwide.
Pre-Test Requirements
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Development of detailed family pedigree chart
- Review of potential outcomes and their significance
- Discussion of insurance coverage and payment options
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our IRF6 Gene Van der Woude Syndrome Type 1 NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With our advanced NGS technology and expert genetic analysis, you can gain valuable insights into your genetic health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your genetic health journey.
Our dedicated genetic specialists are ready to guide you through the testing process, answer your questions, and provide the comprehensive care you deserve. Book your appointment now and discover the power of precision genetic diagnostics.
