The TMEM237 Gene Joubert Syndrome Type 14 Genetic Test is a specialized diagnostic procedure aimed at detecting mutations in the TMEM237 gene, which is associated with Joubert Syndrome Type 14. This condition is a rare genetic disorder characterized by the malformation of the cerebellum and brain stem, leading to a range of developmental delays, motor abnormalities, and often, respiratory difficulties and abnormal eye movements.
Conducted at DNA Labs UAE, this test is crucial for early diagnosis and intervention, helping to tailor specific therapies and support for affected individuals and their families. The test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed for the presence of mutations in the TMEM237 gene.
The cost of the TMEM237 Gene Joubert Syndrome Type 14 Genetic Test at DNA Labs UAE is 4400 AED. Given the complexity and the specialized nature of this genetic test, the price reflects the extensive analysis and expertise required to accurately identify mutations in the TMEM237 gene and provide a conclusive diagnosis. Early detection through this test can significantly impact the management and quality of life for individuals with Joubert Syndrome Type 14, making it a valuable investment for affected families.
The CEP41 gene is associated with Joubert Syndrome Type 15 (JBTS15), a rare genetic disorder characterized by the malformation of the cerebellum and brain stem, leading to a range of neurological symptoms, including coordination and balance issues, abnormal eye movements, and developmental delays. Genetic testing for mutations in the CEP41 gene is crucial for the diagnosis of JBTS15, enabling healthcare providers to offer accurate prognoses, personalized treatment plans, and genetic counseling for affected families.
DNA Labs UAE offers a specialized genetic test targeting the CEP41 gene to diagnose Joubert Syndrome Type 15. The test involves analyzing the patient's DNA to identify mutations in the CEP41 gene that are known to cause the condition. This test is vital for confirming the diagnosis of JBTS15, particularly in individuals showing the syndrome's characteristic symptoms or with a family history of the condition.
The cost of the CEP41 gene test for Joubert Syndrome Type 15 at DNA Labs UAE is 4400 AED. This price includes the full genetic analysis and a comprehensive report that can be used by healthcare professionals to guide treatment and management decisions for the patient. It is important for individuals considering this test to consult with a genetic counselor or healthcare provider to understand the implications of the results and the next steps in care and management.
The TMEM138 Gene Joubert Syndrome Type 16 Genetic Test is a specialized diagnostic assessment offered by DNA Labs UAE, designed to identify mutations in the TMEM138 gene, which are linked to Joubert Syndrome Type 16. This rare genetic disorder is part of a group of conditions known as ciliopathies, characterized by abnormalities in the structure and function of cilia, leading to a range of developmental issues, particularly affecting the cerebellum, an area of the brain that controls balance and coordination.
Joubert Syndrome manifests through a variety of symptoms, including developmental delays, coordination problems, abnormal breathing patterns, and distinctive facial features. The TMEM138 gene plays a critical role in the development and function of cilia; thus, mutations in this gene can disrupt normal cellular processes, leading to the symptoms observed in affected individuals.
The genetic test provided by DNA Labs UAE involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in their state-of-the-art laboratory. The test specifically looks for mutations in the TMEM138 gene that are known to cause Joubert Syndrome Type 16. This precise approach allows for an accurate diagnosis, which is crucial for the management and treatment of the condition.
The cost of the TMEM138 Gene Joubert Syndrome Type 16 Genetic Test at DNA Labs UAE is 4400 AED. While the test comes at a significant cost, the information it provides can be invaluable for affected families, offering insights into the condition and guiding decisions regarding care and treatment. Early diagnosis through genetic testing can also enable timely intervention, potentially improving outcomes for individuals with Joubert Syndrome Type 16.
The CPLANE1 Gene Joubert Syndrome Type 17 Genetic Test is a specialized diagnostic procedure offered at DNA Labs UAE, designed to identify mutations in the CPLANE1 gene, which are associated with Joubert Syndrome Type 17. Joubert Syndrome is a rare genetic disorder characterized by the underdevelopment of the cerebellum and brain stem, leading to a range of developmental delays and physical disabilities. This particular test is crucial for early diagnosis and management of the condition, allowing for tailored therapeutic strategies and support.
Priced at 4400 AED, the test involves collecting a DNA sample from the patient, typically through a blood draw or cheek swab, which is then analyzed in the laboratory for genetic abnormalities in the CPLANE1 gene. The process is conducted with high precision and confidentiality, ensuring reliable results for affected families. Given the complexity of Joubert Syndrome and its impact on individuals’ quality of life, this genetic test is a valuable tool for genetic counseling and planning future medical care.
The TCTN3 Gene Joubert Syndrome Type 18 Genetic Test is a specialized diagnostic examination available at DNA Labs UAE, designed to identify mutations in the TCTN3 gene, which are implicated in the development of Joubert Syndrome Type 18. This rare genetic disorder is characterized by a range of symptoms, including developmental delays, coordination issues, and distinctive structural brain abnormalities known as the "molar tooth sign" on MRI scans. The test, priced at 4400 AED, involves analyzing the patient's DNA to detect mutations in the TCTN3 gene, providing crucial information for diagnosis, treatment planning, and genetic counseling for affected families. By offering this test, DNA Labs UAE provides a valuable resource for individuals and families seeking answers about this rare condition, facilitating early intervention and personalized care strategies.
The TMEM216 Gene Joubert Syndrome Type 2 Genetic Test is a specialized diagnostic procedure designed to detect mutations in the TMEM216 gene, which are linked to Joubert Syndrome Type 2. Joubert Syndrome is a rare genetic disorder characterized by the underdevelopment of the cerebellar vermis—an area of the brain that controls balance and coordination—and a malformation that gives the appearance of a molar tooth sign on MRI scans. Symptoms of the disorder may include hypotonia, ataxia, developmental delays, irregular breathing patterns, and sometimes retinal dystrophy and kidney abnormalities.
The test is offered at DNA Labs UAE, a state-of-the-art facility known for its comprehensive genetic testing services. By analyzing a patient's DNA, the test aims to confirm a diagnosis of Joubert Syndrome Type 2, enabling healthcare providers to offer more personalized treatment plans and genetic counseling for affected families. The cost of the TMEM216 Gene Joubert Syndrome Type 2 Genetic Test is 4400 AED, reflecting the sophisticated technology and expertise required to accurately identify mutations in the TMEM216 gene. Through this test, families gain valuable insights into the genetic basis of the condition, paving the way for better management and understanding of the syndrome.
The TMEM231 Gene Joubert Syndrome Type 20 Genetic Test is a specific diagnostic tool aimed at detecting mutations in the TMEM231 gene, which are associated with Joubert Syndrome Type 20 (JBTS20). Joubert Syndrome is a rare genetic disorder characterized by the malformation of the cerebellum and brain stem, leading to a range of developmental delays, movement disorders, and often, kidney and eye abnormalities. The TMEM231 gene plays a crucial role in the structure and function of primary cilia, which are essential for cell signaling and organ development.
This genetic test is crucial for early diagnosis and management of the condition, offering insights into potential treatments, interventions, and understanding the risk of recurrence in families. Conducted at DNA Labs UAE, a reputable facility known for its advanced genetic testing services, the test costs 4400 AED. The process involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed for mutations in the TMEM231 gene. Results from this test can provide valuable information for affected individuals and their families, guiding medical care and support services to improve quality of life.
The CSPP1 gene Joubert Syndrome Type 21 genetic test is a specialized diagnostic procedure aimed at detecting mutations in the CSPP1 gene, which are associated with Joubert Syndrome Type 21. This rare genetic disorder is characterized by the underdevelopment of the cerebellum and the brain stem, leading to a range of developmental delays, movement disorders, and characteristic facial features. The test is crucial for early diagnosis and management of the condition, enabling targeted interventions and support for affected individuals and their families.
Conducted at DNA Labs UAE, a leading facility in genetic testing, this test offers a comprehensive analysis of the CSPP1 gene to identify any abnormalities that may indicate Joubert Syndrome Type 21. The cost of the test is set at 4400 AED, reflecting the sophisticated technology and expertise required to accurately diagnose this complex condition. By choosing DNA Labs UAE for this test, patients and healthcare providers can expect reliable results, critical for planning the appropriate care and support for those affected by this syndrome.
The PDE6D Gene Joubert Syndrome Type 22 Genetic Test is a specialized diagnostic assessment aimed at identifying mutations in the PDE6D gene, which are implicated in the development of Joubert Syndrome Type 22 (JBTS22). This rare genetic disorder is characterized by a distinctive malformation of the cerebellum, leading to a range of neurological symptoms, including ataxia, hypotonia, and developmental delays. The test is crucial for early diagnosis and management of the condition, allowing for tailored therapeutic interventions and genetic counseling for affected families.
Performed at DNA Labs UAE, the test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed using advanced genetic sequencing techniques to detect mutations in the PDE6D gene. The cost of the test is 4400 AED, reflecting the sophisticated technology and expertise required to accurately diagnose this complex condition. Early detection through the PDE6D Gene Joubert Syndrome Type 22 Genetic Test can significantly impact the quality of life for individuals with JBTS22, providing insights into potential treatments and supportive measures to manage symptoms.
The KIAA0586 gene, implicated in Joubert Syndrome Type 23, is the focus of a specific genetic test available at DNA Labs UAE. Joubert Syndrome is a rare genetic disorder characterized by a distinctive "molar tooth sign" on brain imaging, along with a range of symptoms including developmental delays, hypotonia, and sometimes retinal dystrophy and kidney abnormalities. The disorder is part of a group of diseases known as ciliopathies, caused by dysfunction of cilia, which are microscopic cellular structures important in cell communication and signaling.
The genetic test for Joubert Syndrome Type 23 at DNA Labs UAE specifically targets mutations in the KIAA0586 gene, which have been identified as causative for this subtype of the syndrome. By analyzing a patient's DNA sample, the test can confirm a diagnosis of Joubert Syndrome Type 23, thereby facilitating appropriate management and treatment plans for the patient. Additionally, this test can be instrumental for families seeking to understand their genetic makeup, especially for those planning future pregnancies.
The cost of the KIAA0586 gene test at DNA Labs UAE is 4400 AED. Given the specialized nature of this test, it represents a crucial investment for families affected by Joubert Syndrome, providing them with valuable genetic insights that can help manage the condition more effectively.
