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Symptoms of TSEN54 Gene Pontocerebellar Hypoplasia Type 5 Genetic Test
Pontocerebellar Hypoplasia Type 5 (PCH5) is a severe neurological disorder that affects the development and function of the brain. It is caused by mutations in the TSEN54 gene, which plays a crucial role in brain development. Recognizing the symptoms of this condition early can be crucial for management and treatment. DNA Labs UAE offers a comprehensive genetic test for PCH5, providing families with essential information for managing this condition.
Understanding the Symptoms
The symptoms of PCH5 can vary significantly among affected individuals but generally include a combination of neurological and physical challenges. Early recognition of these symptoms is critical for timely intervention.
- Motor Skills Delay: One of the earliest signs of PCH5 is a significant delay in the development of motor skills. Infants with this condition may struggle with basic movements that are typically mastered in the first months of life.
- Microcephaly: A notable symptom of PCH5 is microcephaly, where the infant’s head circumference is significantly smaller than average for their age and sex. This condition reflects the underdevelopment of the brain.
- Seizures: Many individuals with PCH5 experience seizures, which can vary in severity and frequency. These are due to abnormal electrical activity in the brain.
- Intellectual Disability: Intellectual development is significantly affected in PCH5, with most individuals experiencing moderate to severe intellectual disability.
- Difficulty Swallowing: Swallowing difficulties are common, often necessitating alternative feeding methods to ensure adequate nutrition.
- Respiratory Problems: Respiratory complications, due to neurological deficits affecting the muscles that support breathing, are often observed in individuals with PCH5.
Genetic Testing for PCH5 at DNA Labs UAE
Understanding the genetic basis of PCH5 is essential for accurate diagnosis and management. DNA Labs UAE offers a TSEN54 Gene Pontocerebellar Hypoplasia Type 5 Genetic Test, designed to identify mutations in the TSEN54 gene that are associated with this condition. The test is priced at 4400 AED, providing a valuable tool for families seeking answers.
Early diagnosis through genetic testing can significantly impact the management of PCH5, allowing for targeted interventions and support. The test involves a simple sample collection process, with results that offer insights into potential treatment paths and supportive care measures.
Why Choose DNA Labs UAE?
DNA Labs UAE is a leader in genetic testing, offering a wide range of services to help families understand and manage genetic conditions. Our state-of-the-art laboratory is equipped with the latest technology to ensure accurate and reliable results. Our team of experts is committed to providing compassionate care and support throughout the testing process.
For more information about the TSEN54 Gene Pontocerebellar Hypoplasia Type 5 Genetic Test and other services, visit our website at https://dnalabsuae.com/tests/tsen54-gene-pontocerebellar-hypoplasia-type-5-genetic-test/.
At DNA Labs UAE, we understand the challenges faced by families dealing with genetic conditions. We are dedicated to providing the resources and support needed to navigate these challenges, offering hope and guidance for those affected by PCH5.
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