Symptoms and Testing information for CC2D2A Gene Joubert syndrome type 9 Genetic Test

Symptoms and Testing information for CC2D2A Gene Joubert syndrome type 9 Genetic Test

Joubert Syndrome is a rare genetic disorder that affects the development of the cerebellum, an area of the brain that controls balance and coordination. Type 9 of this syndrome, specifically, is caused by mutations in the CC2D2A gene. Recognizing the symptoms early on can be crucial for the management and treatment of the condition. DNA Labs UAE offers a comprehensive genetic test for Joubert Syndrome Type 9, which can help in diagnosing this condition accurately.

Symptoms of Joubert Syndrome Type 9

Joubert Syndrome Type 9 manifests through a variety of symptoms that are primarily neurological but can also affect other parts of the body. Key symptoms include:

  • Abnormal breathing patterns, especially in newborns
  • Decreased muscle tone (hypotonia), which can lead to difficulties in sitting or walking
  • Motor delays and difficulties with coordination and balance
  • Distinctive facial features such as a broad forehead, arched eyebrows, ptosis, and a triangular-shaped mouth
  • Eye movement abnormalities, which might result in difficulty focusing or following objects with the eyes
  • Intellectual disability, which can vary in severity
  • Retinal dystrophy, leading to impaired vision or blindness
  • Kidney problems, which can range from mild to severe
  • Liver fibrosis
  • Skeletal abnormalities such as polydactyly (extra fingers or toes)

It is important to note that the presence and severity of symptoms can vary significantly among individuals with Joubert Syndrome Type 9. Early diagnosis and intervention are key to managing the symptoms and improving the quality of life for those affected.

Genetic Test for Joubert Syndrome Type 9

DNA Labs UAE offers a specialized genetic test designed to detect mutations in the CC2D2A gene, which is responsible for Joubert Syndrome Type 9. This test is crucial for confirming the diagnosis, especially in individuals who exhibit the symptoms mentioned above. The test involves a simple blood draw or a cheek swab and is conducted in our state-of-the-art laboratory facilities.

The cost of the CC2D2A Gene Joubert Syndrome Type 9 Genetic Test is 4400 AED. While the cost might seem significant, it is a valuable investment in accurately diagnosing this condition, which in turn can guide appropriate treatment and management strategies.

Why Choose DNA Labs UAE?

DNA Labs UAE is a leading provider of genetic testing services in the United Arab Emirates. Our laboratory is equipped with the latest technology and staffed by experienced geneticists and technicians. We are committed to providing accurate, reliable, and confidential testing services. Our CC2D2A Gene Joubert Syndrome Type 9 Genetic Test is just one example of our dedication to offering advanced genetic testing solutions to our clients.

For more information about the CC2D2A Gene Joubert Syndrome Type 9 Genetic Test and to schedule your test, please visit our website at https://dnalabsuae.com/tests/cc2d2a-gene-joubert-syndrome-type-9-genetic-test/.

Understanding the symptoms and obtaining an accurate diagnosis through genetic testing can significantly impact the lives of those affected by Joubert Syndrome Type 9. DNA Labs UAE is here to support you through every step of the process, from testing to understanding your results. Contact us today to learn more about how we can assist you and your family.

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