Symptoms and Testing information for CPLANE1 Gene Joubert Syndrome Type 17 Genetic Test

Symptoms and Testing information for CPLANE1 Gene Joubert Syndrome Type 17 Genetic Test

Joubert Syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Joubert Syndrome Type 17, specifically, is caused by mutations in the CPLANE1 gene. DNA Labs UAE offers a comprehensive genetic test for this condition, providing essential information for affected families. This article delves into the symptoms of CPLANE1 Gene Joubert Syndrome Type 17 and details about the genetic test available at DNA Labs UAE, including the cost.

Symptoms of CPLANE1 Gene Joubert Syndrome Type 17

Joubert Syndrome Type 17 is characterized by a range of symptoms that can vary significantly in severity among individuals. These symptoms are a result of the underdevelopment or abnormal development of the cerebellum and other related structures in the brain. Key symptoms include:

  • Hypotonia: Low muscle tone, which can lead to difficulties in holding up the head, sitting, or walking.
  • Ataxia: Lack of muscle coordination affecting voluntary movements, making tasks such as walking or picking up objects challenging.
  • Cognitive Impairments: Difficulties with intellectual functioning, which can range from mild to severe.
  • Breathing Irregularities: Abnormal breathing patterns, especially in newborns, such as periods of rapid breathing or holding breath.
  • Retinal Dystrophy: Progressive vision loss caused by disorder of the retina.
  • Renal Anomalies: Kidney problems that can affect function and development.
  • Molar Tooth Sign: A hallmark feature of Joubert Syndrome observed in brain imaging studies, resembling the cross-section of a molar tooth.

It is important to note that not all individuals with CPLANE1 Gene Joubert Syndrome Type 17 will experience all of these symptoms, and the severity can vary widely.

Genetic Test for CPLANE1 Gene Joubert Syndrome Type 17 at DNA Labs UAE

DNA Labs UAE offers a comprehensive genetic test for individuals suspected of having Joubert Syndrome Type 17. This test specifically looks for mutations in the CPLANE1 gene that are known to cause the disorder. Genetic testing is crucial for confirming the diagnosis, understanding the risk of passing the condition to future generations, and guiding treatment and management decisions.

The cost of the CPLANE1 Gene Joubert Syndrome Type 17 genetic test at DNA Labs UAE is 4400 AED. This cost covers the genetic analysis and a detailed report of the findings. Families interested in this test are encouraged to visit DNA Labs UAE for more information and to schedule an appointment.

Conclusion

Joubert Syndrome Type 17, caused by mutations in the CPLANE1 gene, presents with a variety of symptoms that can significantly impact an individual’s quality of life. Early diagnosis through genetic testing is essential for managing the condition effectively. DNA Labs UAE provides a specialized genetic test for this syndrome, aiding families in obtaining a definitive diagnosis and guiding their next steps in care and management. With a cost of 4400 AED, the test is a valuable resource for those affected by this rare genetic disorder.

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