Symptoms and Testing information for TMEM138 Gene Joubert Syndrome Type 16 Genetic Test

Symptoms and Testing information for TMEM138 Gene Joubert Syndrome Type 16 Genetic Test

At DNA Labs UAE, we understand the importance of accurate and comprehensive genetic testing for diagnosing and managing rare genetic disorders. One such condition is Joubert Syndrome Type 16, which is caused by mutations in the TMEM138 gene. This article will delve into the symptoms associated with this genetic disorder, the significance of the TMEM138 gene Joubert Syndrome Type 16 genetic test, and its cost.

Symptoms of TMEM138 Gene Joubert Syndrome Type 16

Joubert Syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Type 16, specifically linked to mutations in the TMEM138 gene, presents a range of symptoms that can vary significantly in severity among individuals. These symptoms include:

  • Ataxia, or lack of muscle control and coordination, affecting the ability to walk, pick up objects, or perform other fine motor tasks.
  • Abnormal breathing patterns, such as hyperapnea (rapid breathing) and apnea (temporary cessation of breathing), especially noticeable in newborns.
  • Intellectual disability, ranging from mild to severe.
  • Retinal dystrophy, leading to visual impairment or blindness.
  • Nystagmus, which is the involuntary movement of the eyes.
  • Molar tooth sign, a distinctive midbrain malformation visible on MRI scans, which is a hallmark of Joubert Syndrome.
  • Cystic kidney disease, which can lead to kidney failure.
  • Liver fibrosis, affecting the liver’s ability to function properly.
  • Skeletal abnormalities, including polydactyly (extra fingers or toes) or other limb deformities.

Given the wide range of symptoms and their varying degrees of severity, early and accurate diagnosis through genetic testing is crucial for managing the condition effectively.

TMEM138 Gene Joubert Syndrome Type 16 Genetic Test

The TMEM138 gene Joubert Syndrome Type 16 genetic test is a specialized diagnostic tool used to detect mutations in the TMEM138 gene, confirming a diagnosis of Joubert Syndrome Type 16. This test is performed using a blood sample, where DNA is extracted and analyzed for specific genetic alterations associated with the condition.

Identifying the genetic cause of Joubert Syndrome in an affected individual can provide valuable information for managing the disorder. It allows for tailored treatment plans, informs prognosis, and helps families understand the risk of recurrence in future pregnancies. Additionally, genetic counseling can be offered to affected families to discuss the implications of the diagnosis and support them in making informed decisions regarding family planning.

Cost of the Test

The cost of the TMEM138 gene Joubert Syndrome Type 16 genetic test at DNA Labs UAE is 4400 AED. This cost includes the full analysis of the TMEM138 gene for mutations associated with Joubert Syndrome Type 16, as well as a comprehensive report detailing the findings. Our team of genetic counselors is also available to discuss the results and provide guidance on the next steps following the diagnosis.

Conclusion

Joubert Syndrome Type 16 is a complex condition that requires a comprehensive approach to diagnosis and management. The TMEM138 gene Joubert Syndrome Type 16 genetic test plays a crucial role in identifying affected individuals and facilitating appropriate care. At DNA Labs UAE, we are committed to providing accurate, reliable, and timely genetic testing services to help families navigate the challenges associated with rare genetic disorders.

For more information about the TMEM138 gene Joubert Syndrome Type 16 genetic test, or to schedule a test, please visit our website.

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