ROGDI Gene Kohlschutter-Tonz Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The ROGDI Gene Kohlschutter-Tonz Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neurological conditions. This advanced testing methodology provides crucial insights into the genetic basis of Kohlschutter-Tonz syndrome, enabling early detection and personalized management strategies for affected individuals and families.
What is Kohlschutter-Tonz Syndrome?
Kohlschutter-Tonz syndrome is a rare autosomal recessive neurological disorder characterized by a distinctive combination of symptoms including severe intellectual disability, epilepsy, and amelogenesis imperfecta (abnormal tooth enamel development). The condition is caused by mutations in the ROGDI gene, which plays a critical role in neurological development and function.
What Does This Test Measure?
Our comprehensive NGS genetic test specifically targets the ROGDI gene to identify pathogenic variants responsible for Kohlschutter-Tonz syndrome. The test analyzes:
- Complete ROGDI gene sequencing for point mutations
- Detection of small insertions and deletions
- Identification of copy number variations
- Assessment of known pathogenic variants
- Novel mutation discovery and characterization
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Severe intellectual disability of unknown origin
- Recurrent seizures or epilepsy with unclear etiology
- Abnormal tooth enamel development (amelogenesis imperfecta)
- Family history of Kohlschutter-Tonz syndrome
- Consanguineous parents with neurological concerns
- Unexplained neurological symptoms in multiple family members
Benefits of ROGDI Genetic Testing
Comprehensive Diagnostic Advantages
- Accurate Diagnosis: Provides definitive genetic confirmation of Kohlschutter-Tonz syndrome
- Early Intervention: Enables timely implementation of appropriate management strategies
- Family Planning: Offers crucial information for reproductive decision-making
- Personalized Care: Guides development of targeted treatment approaches
- Genetic Counseling: Supports informed family discussions about inheritance patterns
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Interpretation and Next Steps
Your genetic test results will be carefully analyzed and interpreted by our team of certified genetic counselors and neurologists. Results typically fall into three categories:
Positive Result
If pathogenic mutations are identified in the ROGDI gene, this confirms the diagnosis of Kohlschutter-Tonz syndrome. Our genetic counseling team will provide comprehensive guidance on management strategies, treatment options, and family implications.
Negative Result
A negative result indicates that no known pathogenic variants were detected in the ROGDI gene. However, this doesn’t completely rule out the possibility of Kohlschutter-Tonz syndrome, as novel mutations or variants in other genes might be responsible for the symptoms.
Variant of Uncertain Significance (VUS)
If a genetic variant of unknown clinical significance is identified, our team will provide detailed information about the variant and recommend appropriate follow-up testing or monitoring.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | ROGDI Gene Kohlschutter-Tonz Syndrome 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) Technology |
Pre-Test Requirements
Essential Preparation Steps
Before undergoing the ROGDI Gene Kohlschutter-Tonz Syndrome NGS Genetic DNA Test, patients must complete:
- Comprehensive clinical history documentation
- Genetic counseling session with certified genetic counselor
- Development of detailed pedigree chart documenting family members affected with neurological symptoms
- Review of previous neurological evaluations and test results
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including 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 standards nationwide.
Take Control of Your Neurological Health
Early genetic diagnosis can significantly impact treatment outcomes and quality of life for individuals with Kohlschutter-Tonz syndrome. Our comprehensive testing approach provides the clarity needed to make informed healthcare decisions and develop effective management strategies.
Ready to Schedule Your Test?
Take the first step toward understanding your genetic health. Contact our genetic counseling team today to schedule your ROGDI Gene Kohlschutter-Tonz Syndrome NGS Genetic DNA Test.
Call or WhatsApp: +1(267) 388-9828
Our dedicated team is available to answer your questions, discuss testing options, and help you navigate the genetic testing process with confidence and compassion.
