Joubert Syndrome is a rare genetic disorder that affects the development of the cerebellum, a part of the brain that controls balance and coordination. Joubert Syndrome Type 21, caused by mutations in the CSPP1 gene, is one of the many subtypes of this condition. DNA Labs UAE offers a comprehensive genetic test for families seeking answers about this specific subtype of Joubert Syndrome.
Symptoms of CSPP1 Gene Joubert Syndrome Type 21
Joubert Syndrome Type 21, like other forms of Joubert Syndrome, presents a range of symptoms that can vary significantly in severity among affected individuals. Common symptoms associated with this condition include:
- Ataxia: This refers to a lack of muscle coordination which can affect speech, eye movements, and the ability to swallow.
- Hypotonia: Low muscle tone, which can lead to difficulties in walking and delays in reaching motor milestones.
- Cognitive Impairment: Varying degrees of intellectual disability or developmental delays are common.
- Respiratory Problems: Abnormal breathing patterns, especially during infancy, can be a sign of Joubert Syndrome Type 21.
- Retinal Dystrophy: Progressive vision loss due to retinal degeneration is a possible symptom.
- Renal Abnormalities: Kidney function can be affected, leading to a range of urinary tract issues.
- Molar Tooth Sign: A hallmark of Joubert Syndrome, this refers to a specific appearance on MRI scans indicative of abnormal brain development.
It is important to note that not all individuals with Joubert Syndrome Type 21 will experience all these symptoms, and the severity can vary widely.
Genetic Test for CSPP1 Gene Joubert Syndrome Type 21
DNA Labs UAE is at the forefront of genetic testing, providing a specific test for Joubert Syndrome Type 21. This test is crucial for families seeking a definitive diagnosis. Early diagnosis can lead to better management of the symptoms and improve the quality of life for those affected. The test involves analyzing the CSPP1 gene for mutations that are known to cause the condition.
Test Cost
The cost of the CSPP1 Gene Joubert Syndrome Type 21 Genetic Test at DNA Labs UAE is 4400 AED. While the cost may seem substantial, the value of a definitive diagnosis cannot be overstated. It opens the door to targeted support, potential treatments, and connecting with a community of families facing similar challenges.
Why Choose DNA Labs UAE?
DNA Labs UAE is committed to providing accurate, confidential, and comprehensive genetic testing services. With a team of expert geneticists and state-of-the-art technology, DNA Labs UAE ensures that families receive the support and information they need. Furthermore, the lab is dedicated to ongoing research and development in the field of genetic disorders, contributing to a better understanding and potential future treatments.
For more information on the CSPP1 Gene Joubert Syndrome Type 21 Genetic Test, or to schedule a test, please visit DNA Labs UAE.
Understanding the symptoms and obtaining an early diagnosis through genetic testing can make a significant difference in managing Joubert Syndrome Type 21. DNA Labs UAE is here to support families every step of the way, from diagnosis to connecting with resources and support networks.
