TBC1D24 Gene DOOR Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for DOOR Syndrome
The TBC1D24 Gene DOOR Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neurodevelopmental disorders. This advanced test specifically targets mutations in the TBC1D24 gene, which plays a critical role in neuronal development and function. DOOR syndrome (Deafness, Onychodystrophy, Osteodystrophy, and Mental Retardation) is a complex condition that affects multiple body systems, making accurate genetic diagnosis essential for proper management and treatment planning.
What Does This Test Detect?
Our comprehensive NGS-based genetic test specifically identifies:
- Pathogenic variants in the TBC1D24 gene
- Missense, nonsense, and frameshift mutations
- Copy number variations affecting the TBC1D24 locus
- Novel genetic variants with potential clinical significance
- Inheritance patterns for family counseling
Advanced NGS Technology
Utilizing state-of-the-art Next-Generation Sequencing technology, this test provides unparalleled accuracy in detecting even the most subtle genetic variations. The comprehensive analysis covers the entire coding region of the TBC1D24 gene, ensuring no mutation goes undetected.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Sensorineural hearing loss or congenital deafness
- Onychodystrophy – abnormal nail development and structure
- Osteodystrophy – skeletal abnormalities and bone development issues
- Intellectual disability or developmental delays
- Seizures or epilepsy symptoms
- Family history of DOOR syndrome or related conditions
- Unexplained neurodevelopmental disorders
Clinical Indications
Patients with suspected DOOR syndrome often present with a combination of these symptoms, though the severity and specific manifestations can vary significantly between individuals. Early genetic testing can provide clarity and guide appropriate interventions.
Benefits of Genetic Testing
- Accurate Diagnosis: Confirm or rule out DOOR syndrome with genetic certainty
- Personalized Treatment: Guide medical management based on specific genetic findings
- Family Planning: Provide crucial information for reproductive decisions
- Early Intervention: Enable timely therapeutic interventions for better outcomes
- Genetic Counseling: Support informed decision-making for affected families
- Research Contribution: Help advance understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test report will provide comprehensive information about:
- Positive Result: Identification of pathogenic TBC1D24 mutations confirming DOOR syndrome diagnosis
- Negative Result: No detected mutations in the TBC1D24 gene
- Variant of Uncertain Significance: Genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Information about inheritance patterns and family risk
Post-Test Guidance
All positive results include detailed genetic counseling to help you understand the implications for your health and family. Our team of genetic specialists will explain the findings and discuss next steps for medical management and family planning.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | TBC1D24 Gene DOOR 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 |
| Methodology | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Genetic counseling session scheduled
- Pedigree chart of family members affected with TBC1D24-related conditions
- Relevant medical records and previous test results
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network of certified genetic testing facilities ensures accessibility and consistent quality standards nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our TBC1D24 Gene DOOR Syndrome NGS Genetic DNA Test provides the answers you need for informed medical care and family planning.
Call us today at +1(267) 388-9828 to schedule your genetic test or speak with our genetic counseling team. Take control of your genetic health with comprehensive, accurate testing from trusted experts in genetic diagnostics.
Our dedicated team is available to answer your questions, explain the testing process, and help you understand how genetic testing can benefit you and your family. Contact us now to begin your journey toward genetic clarity and personalized healthcare.
