Symptoms and Testing information for TCTN3 Gene Joubert Syndrome Type 18 Genetic Test

Symptoms and Testing information for TCTN3 Gene Joubert Syndrome Type 18 Genetic Test

DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive range of services designed to provide accurate, timely, and informative insights into various genetic conditions. Among these, the TCTN3 Gene Joubert Syndrome Type 18 Genetic Test stands out for its critical role in diagnosing a rare but significant genetic disorder that affects many aspects of a patient’s life. This article will delve into the symptoms of TCTN3 Gene Joubert Syndrome Type 18, the importance of genetic testing, and details about the test available at DNA Labs UAE, including its cost.

Symptoms of TCTN3 Gene Joubert Syndrome Type 18

Joubert Syndrome is a rare genetic disorder that impacts the cerebellum, an area of the brain that controls balance and coordination. TCTN3 Gene Joubert Syndrome Type 18 is a specific form of this condition characterized by several distinct symptoms. Individuals with this syndrome may exhibit a range of physical and developmental symptoms, including:

  • Abnormal breathing patterns, especially in infancy
  • Motor delays, including difficulty sitting, standing, or walking
  • Intellectual disability, which can vary in severity
  • Abnormal eye movements, such as jerking or inability to track objects smoothly
  • A characteristic facial appearance, including a broad forehead and arched eyebrows
  • Episodes of rapid eye blinking or closing

These symptoms are often accompanied by abnormalities in the cerebellum, visible through magnetic resonance imaging (MRI). The presence of the “molar tooth sign,” a specific MRI finding, is considered a hallmark of Joubert Syndrome, indicating abnormal brain development.

Importance of Genetic Testing for Joubert Syndrome Type 18

Genetic testing plays a crucial role in diagnosing Joubert Syndrome Type 18. Identifying the specific genetic mutation allows for a definitive diagnosis, essential for managing the condition effectively. Early diagnosis through genetic testing can lead to early intervention, which may significantly improve the quality of life for those affected. Moreover, understanding the genetic basis of the syndrome helps in genetic counseling for families, providing them with information on the likelihood of recurrence in future pregnancies.

TCTN3 Gene Joubert Syndrome Type 18 Genetic Test at DNA Labs UAE

DNA Labs UAE offers the TCTN3 Gene Joubert Syndrome Type 18 Genetic Test, a sophisticated diagnostic tool designed to detect mutations in the TCTN3 gene, which are indicative of this particular form of Joubert Syndrome. Conducted by a team of experienced geneticists and laboratory technicians, the test involves a simple blood sample from the patient. Our state-of-the-art laboratory ensures accurate and reliable results, enabling healthcare providers to make informed decisions regarding the patient’s management and care.

The cost of the TCTN3 Gene Joubert Syndrome Type 18 Genetic Test at DNA Labs UAE is 4400 AED. While the cost may seem significant, it is a valuable investment in accurately diagnosing Joubert Syndrome, facilitating early intervention strategies, and providing essential information for family planning.

For more information about the TCTN3 Gene Joubert Syndrome Type 18 Genetic Test, including how to schedule a test and prepare for your appointment, please visit our website at https://dnalabsuae.com/tests/tctn3-gene-joubert-syndrome-type-18-genetic-test/.

In conclusion, the TCTN3 Gene Joubert Syndrome Type 18 Genetic Test is a critical tool in diagnosing a complex genetic disorder that affects individuals from infancy. DNA Labs UAE is committed to providing this essential service, helping to improve the lives of those affected by Joubert Syndrome and their families. With accurate diagnosis, individuals can receive the care and support they need, highlighting the importance of advanced genetic testing in modern healthcare.

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