IRF6 Gene Orofacial Cleft Type 6 NGS Genetic DNA Test
Comprehensive Genetic Testing for Cleft Lip and Palate Conditions
The IRF6 Gene Orofacial Cleft Type 6 NGS Genetic DNA Test represents a significant advancement in genetic diagnostics for craniofacial abnormalities. This specialized test focuses on identifying mutations in the IRF6 (Interferon Regulatory Factor 6) gene, which plays a crucial role in facial development during embryonic growth. When mutations occur in this gene, they can lead to various forms of orofacial clefts, including isolated cleft lip/palate and syndromic conditions like Van der Woude syndrome.
What Does This Test Measure and Detect?
Our advanced NGS technology provides comprehensive analysis of the IRF6 gene to detect:
- Point mutations and small insertions/deletions in the IRF6 gene coding regions
- Genetic variations associated with Van der Woude syndrome (VWS)
- Mutations linked to popliteal pterygium syndrome
- Pathogenic variants responsible for isolated cleft lip and palate
- Inheritance patterns for genetic counseling purposes
Who Should Consider This Genetic Test?
This test is particularly recommended for:
- Individuals with personal or family history of cleft lip and/or palate
- Parents planning pregnancy with known family history of orofacial clefts
- Children presenting with characteristic facial features including lip pits
- Patients with syndromic features beyond isolated cleft conditions
- Families seeking recurrence risk information for future pregnancies
- Individuals with suspected Van der Woude syndrome manifestations
Clinical Symptoms and Indications
Common clinical presentations that warrant IRF6 genetic testing include:
- Cleft lip with or without cleft palate
- Isolated cleft palate
- Lower lip pits or mucous cysts
- Popliteal webbing or pterygium
- Syndactyly or other limb abnormalities
- Genitourinary anomalies in some cases
- Family history of similar craniofacial conditions
Benefits of IRF6 Genetic Testing
Comprehensive Diagnostic Clarity
Our NGS-based approach provides unparalleled accuracy in detecting IRF6 gene mutations, offering definitive diagnosis for patients and families affected by orofacial cleft conditions. The high sensitivity of next-generation sequencing ensures comprehensive coverage of the entire gene, minimizing the risk of false negatives.
Enhanced Treatment Planning
Genetic confirmation enables healthcare providers to develop targeted treatment strategies, coordinate multidisciplinary care teams, and optimize surgical planning for cleft repair procedures. Understanding the specific genetic basis helps predict potential associated features and complications.
Family Planning and Genetic Counseling
Test results provide valuable information for recurrence risk assessment, enabling informed family planning decisions. Our genetic counseling services help families understand inheritance patterns and reproductive options.
Early Intervention Opportunities
Early genetic diagnosis facilitates timely interventions, specialized feeding techniques, speech therapy planning, and comprehensive care coordination from birth through adulthood.
Understanding Your Test Results
Positive Result Interpretation
A positive result indicates the presence of a pathogenic mutation in the IRF6 gene. This confirms the genetic diagnosis of Van der Woude syndrome or IRF6-related orofacial cleft condition. Our genetic counselors will provide detailed explanation of the specific mutation, inheritance pattern, and clinical implications.
Negative Result Considerations
A negative result suggests that no pathogenic mutations were detected in the IRF6 gene. However, this does not completely rule out genetic causes, as other genes may be involved in orofacial cleft development. Further testing may be recommended based on clinical presentation.
Variant of Uncertain Significance
In some cases, genetic variations of uncertain clinical significance may be identified. These require careful interpretation by our genetics team and may involve additional family studies for clarification.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Specialty: Pediatrics
- Department: Genetics
- Method: NGS Technology
- Disease Type: Dysmorphology
Pre-Test Requirements
Before testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of affected family members
- Informed consent for genetic testing
Nationwide Accessibility
General Genetics Corporation maintains comprehensive testing facilities across the United States, with branches in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures convenient access to advanced genetic testing services regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic risks impact your family’s future. Our IRF6 Gene Orofacial Cleft Type 6 NGS Genetic DNA Test provides the answers you need for informed healthcare decisions and family planning. With our discounted price of $500 and comprehensive genetic counseling support, you can access world-class genetic testing without financial burden.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Take control of your genetic health journey with General Genetics Corporation – where advanced science meets personalized care.
