PITX2 Gene Axenfeld-Rieger Syndrome Type 1 NGS Genetic DNA Test
Understanding Axenfeld-Rieger Syndrome Type 1
Axenfeld-Rieger syndrome type 1 is a rare genetic disorder affecting approximately 1 in 200,000 individuals, characterized by developmental abnormalities primarily affecting the eyes, teeth, and facial structures. This autosomal dominant condition results from mutations in the PITX2 gene, which plays a crucial role in embryonic development and tissue differentiation. The PITX2 Gene Axenfeld-Rieger Syndrome Type 1 NGS Genetic DNA Test represents a significant advancement in genetic diagnostics, providing comprehensive analysis of this critical developmental gene.
What Does This Test Detect?
Our advanced NGS (Next-Generation Sequencing) technology provides comprehensive analysis of the PITX2 gene, detecting:
- Point mutations affecting gene function
- Small insertions and deletions disrupting protein structure
- Regulatory region variants impacting gene expression
- Copy number variations affecting gene dosage
- Splice site mutations altering protein production
Clinical Significance of PITX2 Mutations
The PITX2 gene encodes a transcription factor essential for proper development of the anterior segment of the eye, teeth, and umbilical region. Mutations in this gene disrupt normal developmental pathways, leading to the characteristic features of Axenfeld-Rieger syndrome type 1.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Ocular abnormalities: Posterior embryotoxon, iris hypoplasia, corectopia, or glaucoma
- Dental features: Hypodontia, microdontia, or conical teeth
- Craniofacial characteristics: Maxillary hypoplasia, broad nasal bridge, or telecanthus
- Umbilical anomalies: Redundant periumbilical skin
- Family history: Known or suspected Axenfeld-Rieger syndrome in relatives
Early Detection Benefits
Early genetic testing enables proactive management of potential complications, particularly glaucoma, which affects up to 50% of individuals with Axenfeld-Rieger syndrome and can lead to significant vision loss if untreated.
Benefits of PITX2 Genetic Testing
- Definitive Diagnosis: Provides conclusive genetic confirmation of Axenfeld-Rieger syndrome type 1
- Personalized Treatment: Enables targeted management strategies based on specific mutation type
- Family Planning: Offers valuable information for genetic counseling and reproductive decisions
- Proactive Monitoring: Facilitates early intervention for associated complications
- Research Contribution: Advances understanding of developmental genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic mutation in the PITX2 gene, confirming the diagnosis of Axenfeld-Rieger syndrome type 1. This information enables:
- Implementation of appropriate surveillance protocols
- Early intervention for glaucoma risk management
- Coordination of multidisciplinary care
- Genetic counseling for family members
Negative Result Interpretation
A negative result suggests that PITX2 mutations are not responsible for the clinical presentation. However, additional genetic testing may be recommended to evaluate other potential causes of similar symptoms.
Variant of Uncertain Significance
In some cases, genetic variants of uncertain clinical significance may be identified. Our genetic counseling team provides comprehensive guidance on the implications of such findings and recommends appropriate follow-up.
Test Details and Pricing
| Test Feature | Details |
|---|---|
| Test Name | PITX2 Gene Axenfeld-Rieger Syndrome Type 1 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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) |
Pre-Test Requirements
Before undergoing testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to discuss testing implications
- Development of a detailed pedigree chart documenting family history
- Informed consent understanding the benefits and limitations of testing
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, and many other cities. Our network of certified genetic counselors and healthcare providers ensures accessible, high-quality genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Understanding your genetic profile is the first step toward effective management of Axenfeld-Rieger syndrome type 1. Our comprehensive PITX2 genetic testing provides the clarity needed for informed healthcare decisions and personalized treatment approaches.
Ready to schedule your genetic test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online to begin your journey toward genetic understanding and improved health outcomes.
