Joubert Syndrome is a rare genetic disorder that affects the development of the cerebellum, a part of the brain that controls balance and coordination. Among the various genes associated with this condition, mutations in the TCTN2 gene have been identified as a cause of Joubert Syndrome Type 24. Recognizing the symptoms and understanding the genetic basis of this condition are crucial for early diagnosis and management. At DNA Labs UAE, we offer a specialized genetic test for identifying mutations in the TCTN2 gene, aiding in the diagnosis of Joubert Syndrome Type 24.
Symptoms of TCTN2 Gene Joubert Syndrome Type 24
Joubert Syndrome Type 24, caused by mutations in the TCTN2 gene, is characterized by a range of symptoms that can vary significantly in severity among affected individuals. The most common symptoms include:
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Abnormal breathing patterns, particularly in infancy, such as episodes of rapid breathing (hyperpnea) or temporary cessation of breathing (apnea).
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Motor delays and difficulties with coordination and balance due to the underdevelopment of the cerebellum.
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Abnormal eye movements, which may include jerky movements (nystagmus) or difficulty in controlling eye movements.
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Intellectual disability, which can range from mild to severe.
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A distinctive facial appearance, including a broad forehead, arched eyebrows, ptosis, and a triangular-shaped mouth.
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The presence of the “molar tooth sign” on MRI, a hallmark feature of Joubert Syndrome that indicates abnormal brain development.
Additionally, some individuals may experience other symptoms such as kidney anomalies, liver dysfunction, and retinal dystrophy, contributing to the complexity of the condition.
Genetic Testing for Joubert Syndrome Type 24
Genetic testing plays a pivotal role in the diagnosis of Joubert Syndrome Type 24. At DNA Labs UAE, we offer a comprehensive genetic test that analyzes the TCTN2 gene for mutations known to cause this condition. This test is crucial for confirming the diagnosis, especially in cases where the clinical symptoms are unclear or overlap with other conditions.
Benefits of Genetic Testing
Undergoing genetic testing for Joubert Syndrome Type 24 offers several benefits:
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Provides a definitive diagnosis, helping to guide medical management and interventions.
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Enables genetic counseling for families, offering insights into the inheritance patterns and risks for future pregnancies.
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Facilitates early intervention and support services, improving the quality of life for affected individuals.
Test Cost
The cost of the TCTN2 Gene Joubert Syndrome Type 24 Genetic Test at DNA Labs UAE is 4400 AED. This cost includes the test itself and a comprehensive consultation to discuss the results and implications for the patient and their family.
Conclusion
Joubert Syndrome Type 24 is a complex condition with a wide range of symptoms, making early and accurate diagnosis challenging yet crucial for effective management. Genetic testing for mutations in the TCTN2 gene provides a powerful tool for diagnosing this condition. At DNA Labs UAE, we are committed to offering this specialized test, supporting families in understanding their genetic health and making informed decisions about their care. For more information and to schedule a test, please visit our website.
