IRF6 Gene Popliteal Pterygium Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Inherited Disorder
The IRF6 Gene Popliteal Pterygium Syndrome Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the IRF6 (Interferon Regulatory Factor 6) gene, which plays a crucial role in embryonic development and tissue formation. This specialized genetic test utilizes Next-Generation Sequencing technology to provide comprehensive analysis of the IRF6 gene, enabling accurate detection of pathogenic variants associated with Popliteal Pterygium Syndrome Type 1, a rare autosomal dominant condition affecting multiple body systems.
What Does This Test Measure and Detect?
Our advanced NGS-based genetic test specifically targets and analyzes the complete coding region of the IRF6 gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions (indels)
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting gene expression
- Pathogenic variants known to cause Popliteal Pterygium Syndrome Type 1
The test provides comprehensive coverage of all exons and flanking intronic regions, ensuring high detection sensitivity for clinically relevant variants that disrupt normal craniofacial and limb development.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with characteristic features of Popliteal Pterygium Syndrome Type 1, including:
- Newborns or children with cleft lip and/or palate
- Individuals with popliteal pterygium (webbed skin behind the knees)
- Patients exhibiting syndactyly (fused fingers or toes)
- Those with characteristic facial features including lower lip pits
- Individuals with genitourinary abnormalities
- Patients with a family history of Popliteal Pterygium Syndrome
- Couples planning pregnancy with known family history of the condition
Key Benefits of Genetic Testing
Undergoing the IRF6 Gene Popliteal Pterygium Syndrome Type 1 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms clinical suspicion and provides definitive genetic diagnosis
- Family Planning: Enables informed reproductive decisions and prenatal testing options
- Personalized Management: Guides appropriate medical and surgical interventions
- Early Intervention: Facilitates timely multidisciplinary care coordination
- Genetic Counseling: Provides basis for comprehensive family risk assessment
- Research Contribution: Helps expand understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic testing provides clear, actionable results with detailed interpretation:
- Positive Result: Identifies a pathogenic variant in the IRF6 gene, confirming diagnosis of Popliteal Pterygium Syndrome Type 1
- Negative Result: No pathogenic variants detected, though clinical features may suggest alternative diagnoses
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines inheritance patterns and recurrence risks for family members
All results include detailed clinical correlation and recommendations for follow-up care with genetics specialists.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | IRF6 Gene Popliteal Pterygium 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 |
| Specialty | Pediatrics, Genetics |
| Disease Category | Dysmorphology |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to document family pedigree
- Informed consent for genetic testing
- Documentation of relevant clinical features and symptoms
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, San Jose, and many more cities. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
If you or your loved one exhibits symptoms suggestive of Popliteal Pterygium Syndrome Type 1, don’t delay in seeking definitive genetic answers. Our specialized genetic testing provides the clarity needed for proper diagnosis and management planning. Contact our genetic counseling team today to discuss your testing options and schedule your appointment.
Call or WhatsApp us now at +1(267) 388-9828 to book your IRF6 Gene Popliteal Pterygium Syndrome Type 1 NGS Genetic DNA Test and take control of your genetic health journey.
