Symptoms of TBC1D24 Gene DOOR Syndrome Genetic Test
DOOR syndrome, an acronym for Deafness, Onychodystrophy, Osteodystrophy, and mental Retardation, is a rare genetic disorder caused by mutations in the TBC1D24 gene. This complex condition presents a wide range of symptoms, impacting numerous bodily systems. Recognizing these symptoms early can be crucial for managing the condition and improving the quality of life for those affected. DNA Labs UAE offers a comprehensive genetic test for the TBC1D24 gene, helping to identify this syndrome in individuals.
Comprehensive Symptoms
The symptoms of DOOR syndrome vary significantly among individuals but generally include the following key characteristics:
- Deafness: Sensorineural hearing loss is a common symptom, often present from birth.
- Onychodystrophy: Abnormal development and appearance of the nails.
- Osteodystrophy: Poor bone development which can lead to fragile bones and skeletal abnormalities.
- Mental Retardation: Developmental delays and intellectual disabilities of varying degrees.
- Seizures: A significant number of individuals with DOOR syndrome experience seizures, which can vary in frequency and severity.
- Neuropathy: Peripheral neuropathy, affecting the nerves outside the brain and spinal cord, can cause weakness, numbness, and pain usually in the hands and feet.
Additional symptoms may include vision problems, skin abnormalities, and less commonly, heart and kidney issues. The severity and combination of these symptoms can differ widely from one individual to another.
Importance of Genetic Testing
Genetic testing for the TBC1D24 gene is vital for diagnosing DOOR syndrome. It not only confirms the diagnosis but also aids in the understanding of the condition’s severity and potential complications. This information is crucial for developing a comprehensive management plan tailored to the individual’s needs.
Test Cost
The cost of the TBC1D24 Gene DOOR Syndrome Genetic Test at DNA Labs UAE is 4400 AED. While the price may seem significant, the value of the information it provides cannot be overstated. Early diagnosis and intervention can significantly impact the management of the syndrome, potentially improving developmental outcomes and the overall quality of life for those affected.
Conclusion
DOOR syndrome is a complex condition that requires a multidisciplinary approach for management and care. Recognizing the symptoms early and undergoing genetic testing is crucial. DNA Labs UAE offers a comprehensive genetic test for the TBC1D24 gene, providing families with the information they need to navigate this challenging condition. For more information and to schedule a test, visit DNA Labs UAE.
