GJA1 Gene Oculodentodigital Dysplasia NGS Genetic DNA Test
Comprehensive Genetic Analysis for ODDD Syndrome
The GJA1 Gene Oculodentodigital Dysplasia NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the GJA1 gene, which encodes connexin 43 protein. This specialized genetic test utilizes Next-Generation Sequencing technology to provide comprehensive analysis of the entire GJA1 gene, enabling precise detection of pathogenic variants responsible for Oculodentodigital Dysplasia (ODDD). This rare autosomal dominant disorder affects approximately 1 in 10 million individuals worldwide and requires sophisticated genetic testing for accurate diagnosis and family planning.
What Does This Test Detect?
Our advanced NGS-based genetic test specifically targets and analyzes the GJA1 gene located on chromosome 6q22.31. The test identifies:
- Point mutations, deletions, and insertions in the GJA1 gene
- Pathogenic variants affecting connexin 43 gap junction function
- Genetic changes responsible for impaired cell-to-cell communication
- Both inherited and de novo mutations causing ODDD syndrome
- Specific mutation types including missense, nonsense, and frameshift variants
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with characteristic features of Oculodentodigital Dysplasia or those with family history of the condition. Key symptoms and indications include:
- Ocular abnormalities: Microphthalmia, microcornea, glaucoma, vision impairment
- Dental manifestations: Enamel hypoplasia, early tooth loss, dental caries
- Digital anomalies: Syndactyly (fused fingers/toes), camptodactyly (bent fingers)
- Craniofacial features: Thin nose with hypoplastic alae, prominent forehead
- Neurological symptoms: Spastic paraplegia, gait abnormalities in some cases
- Family history: Individuals with relatives diagnosed with ODDD syndrome
Benefits of GJA1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms ODDD syndrome with molecular precision
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Early Intervention: Facilitates timely management of dental, ocular, and skeletal issues
- Personalized Care: Guides targeted treatment approaches based on specific mutation
- Prognostic Information: Helps predict disease progression and potential complications
- Genetic Counseling: Provides basis for family member testing and risk assessment
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results with clinical context:
- Positive Result: Indicates presence of pathogenic GJA1 mutation confirming ODDD diagnosis
- Negative Result: No mutation detected, though clinical correlation is essential
- Variant of Uncertain Significance: Genetic change identified requiring further evaluation
- Carrier Status: Important for family members and reproductive planning
All results are accompanied by detailed explanations and recommendations for follow-up care with genetic specialists.
Test Pricing and Information
| Test Component | Details |
|---|---|
| Test Name | GJA1 Gene Oculodentodigital Dysplasia NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Testing Method | NGS Technology |
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 more. Our network of certified genetic testing facilities ensures accessible, reliable service regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our GJA1 Gene Oculodentodigital Dysplasia NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With our discounted price of $500 USD and comprehensive 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.
