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 […]
2024
Symptoms and Testing information for PDE6D Gene Joubert Syndrome Type 22 Genetic Test
Symptoms of PDE6D Gene Joubert Syndrome Type 22 Joubert Syndrome Type 22, caused by mutations in the PDE6D gene, is a rare genetic disorder that affects multiple areas of the body, including the brain, eyes, kidneys, and liver. This condition is part of a group of disorders known as ciliopathies, which are characterized by abnormalities […]
Symptoms and Testing information for KIAA0586 Gene Joubert Syndrome Type 23 Genetic Test
Joubert Syndrome is a rare genetic disorder that affects the development of the cerebellum, a part of the brain that controls balance and coordination. Type 23 of this syndrome, specifically linked to mutations in the KIAA0586 gene, presents unique challenges and symptoms for those affected. At DNA Labs UAE, we offer a comprehensive genetic test […]
Symptoms and Testing information for TCTN2 Gene Joubert Syndrome Type 24 Genetic Test
Joubert Syndrome is a rare genetic disorder that affects the development of the cerebellum, a part of the brain that controls balance and coordination. Among the various genes associated with this condition, mutations in the TCTN2 gene have been identified as a cause of Joubert Syndrome Type 24. Recognizing the symptoms and understanding the genetic […]
Symptoms and Testing information for AHI1 Gene Joubert Syndrome Type 3 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. Joubert Syndrome Type 3, in particular, is caused by mutations in the AHI1 gene. This condition is characterized by a distinctive “molar tooth sign” visible on brain imaging, alongside a variety […]
Symptoms and Testing information for NPHP1 Gene Joubert Syndrome Type 4 Genetic Test
Joubert Syndrome is a rare genetic disorder that affects the development of the cerebellum, a part of the brain that controls balance and coordination. Among the various genes associated with Joubert Syndrome, mutations in the NPHP1 gene are known to cause Joubert Syndrome Type 4. This specific type of Joubert Syndrome can lead to a […]
Symptoms and Testing information for CEP290 Gene Joubert Syndrome Type 5 Genetic Test
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 5, specifically, is caused by mutations in the CEP290 gene. This condition is characterized by a range of symptoms that can vary significantly in severity among individuals. Understanding […]
Symptoms and Testing information for TMEM67 Gene Joubert Syndrome Type 6 Genetic Test
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 6 is specifically linked to mutations in the TMEM67 gene. This condition is characterized by a distinctive malformation of the brain’s structure, often referred to as the “molar […]
Symptoms and Testing information for RPGRIP1L Gene Joubert Syndrome Type 7 Genetic Test
DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive range of services to help individuals and families understand their genetic makeup and potential health risks. One of the critical tests provided by DNA Labs UAE is for Joubert Syndrome Type 7, caused by mutations in the RPGRIP1L gene. This […]
Symptoms and Testing information for ARL13B Gene Joubert Syndrome Type 8 Genetic Test
Symptoms of ARL13B Gene Joubert Syndrome Type 8 Joubert Syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Joubert Syndrome Type 8, specifically linked to mutations in the ARL13B gene, exhibits a range of clinical symptoms that can vary significantly from one individual to […]