MED12 Gene Opitz-Kaveggia Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurodevelopmental Disorders
The MED12 Gene Opitz-Kaveggia Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals and families affected by neurodevelopmental conditions. This advanced genetic analysis specifically targets the MED12 gene, which plays a critical role in transcriptional regulation and neural development. Mutations in this gene are directly linked to Opitz-Kaveggia syndrome, a rare X-linked disorder characterized by intellectual disability, distinctive facial features, and developmental delays.
What Does This Test Measure?
Our comprehensive NGS-based test performs detailed analysis of the MED12 gene to identify:
- Pathogenic variants and mutations in the MED12 gene
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations affecting the MED12 locus
- X-linked inheritance patterns specific to Opitz-Kaveggia syndrome
- Genetic markers associated with neurodevelopmental impairment
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Unexplained intellectual disability or developmental delay
- Characteristic facial dysmorphism including prominent forehead, hypertelorism, and down-slanting palpebral fissures
- Macrocephaly (unusually large head circumference)
- Behavioral abnormalities including hyperactivity and attention deficits
- Family history of X-linked intellectual disability
- Multiple congenital anomalies with unknown genetic cause
- Suspected Opitz-Kaveggia syndrome based on clinical presentation
Key Benefits of MED12 Genetic Testing
- Definitive Diagnosis: Provides conclusive genetic confirmation of Opitz-Kaveggia syndrome
- Personalized Management: Enables targeted medical interventions and therapeutic approaches
- Genetic Counseling: Supports informed family planning and recurrence risk assessment
- Early Intervention: Facilitates timely developmental support and educational planning
- Research Contribution: Advances understanding of MED12-related disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your MED12 gene analysis:
- Positive Result: Indicates the presence of a pathogenic MED12 mutation, confirming Opitz-Kaveggia syndrome diagnosis
- Negative Result: Suggests that MED12 mutations are not detected, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines X-linked carrier status in female relatives
All results are accompanied by detailed genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| MED12 Gene Opitz-Kaveggia Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| MED12 Gene Opitz-Kaveggia Syndrome NGS Genetic DNA Test – Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Pediatric Genetics
- Department: Genetics
- Disease Category: Dysmorphology
Pre-Test Requirements
Before scheduling your MED12 genetic test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of family members affected with MED12-related conditions
- Informed consent for genetic testing
Nationwide Accessibility
We have conveniently located branches across the United States, serving patients 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 counselors and medical professionals ensures comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our MED12 Gene Opitz-Kaveggia Syndrome NGS Genetic DNA Test provides the answers you need for informed medical decisions and family planning. With our discounted price of only $500 USD and comprehensive genetic counseling support, you can gain valuable insights into your genetic health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic consultation and book your MED12 genetic test. Our experienced genetic specialists are ready to guide you through every step of the testing process and help you understand your results with compassion and expertise.
