GNAI3 Gene Auriculocondylar Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Craniofacial Disorders
The GNAI3 Gene Auriculocondylar Syndrome Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals and families affected by craniofacial abnormalities. This advanced genetic test specifically targets mutations in the GNAI3 gene, which plays a critical role in embryonic development and facial morphogenesis. Auriculocondylar Syndrome Type 1 is a rare genetic disorder characterized by distinctive facial features and skeletal abnormalities that can significantly impact quality of life.
What Does This Test Measure and Detect?
Our comprehensive NGS-based genetic test specifically analyzes the GNAI3 gene for pathogenic variants associated with Auriculocondylar Syndrome Type 1. The test detects:
- Point mutations and single nucleotide variants in the GNAI3 gene
- Small insertions and deletions affecting gene function
- Copy number variations that may disrupt normal gene expression
- Pathogenic variants responsible for autosomal dominant inheritance patterns
The GNAI3 gene encodes a subunit of heterotrimeric G proteins that are essential for signal transduction pathways during embryonic development. Mutations in this gene disrupt normal craniofacial development, leading to the characteristic features of Auriculocondylar Syndrome.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with the following symptoms or clinical indications:
- Newborns or children with characteristic facial dysmorphisms including mandibular hypoplasia
- Individuals with malformed ears, particularly “question mark” shaped ears
- Patients with temporomandibular joint abnormalities or limited jaw movement
- Those with family history of craniofacial syndromes or similar facial features
- Individuals with unexplained developmental delays accompanied by facial abnormalities
- Couples with family history of the condition planning pregnancy
Key Benefits of GNAI3 Genetic Testing
Undergoing this comprehensive genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive molecular confirmation of Auriculocondylar Syndrome Type 1
- Family Planning Guidance: Enables informed reproductive decisions for affected families
- Personalized Treatment Planning: Guides appropriate medical and surgical interventions
- Early Intervention: Facilitates timely management of associated complications
- Genetic Counseling: Supports families in understanding inheritance patterns and recurrence risks
- Research Contribution: Helps advance scientific understanding of craniofacial disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your test results effectively:
- Positive Result: Indicates the presence of a pathogenic GNAI3 gene mutation, confirming the diagnosis of Auriculocondylar Syndrome Type 1
- Negative Result: Suggests that no disease-causing mutations were detected in the GNAI3 gene
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance is currently unknown
- Carrier Status: Determines if individuals carry a single copy of the mutation
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors to ensure you fully understand the implications for your health and family planning.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Availability and Booking
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing regardless of location.
To schedule your GNAI3 Gene Auriculocondylar Syndrome Type 1 NGS Genetic DNA Test, contact our genetic counseling team at +1(267) 388-9828 or book your appointment online through our secure patient portal. Our dedicated staff will guide you through the pre-test counseling process and ensure you receive comprehensive support throughout your genetic testing journey.
Take the first step toward understanding your genetic health today. Early diagnosis and intervention can significantly improve outcomes for individuals with craniofacial disorders.
