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 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.
The AHI1 Gene Joubert Syndrome Type 3 Genetic Test is a specialized diagnostic procedure designed to identify mutations in the AHI1 gene, which are linked to Joubert Syndrome Type 3, a rare genetic disorder. This condition is characterized by the underdevelopment of the cerebellum and brain stem, leading to a range of symptoms such as coordination and balance problems, irregular breathing patterns, and cognitive impairments. The test is crucial for early diagnosis and management of the syndrome, providing essential information for healthcare providers to tailor appropriate treatment and intervention strategies for affected individuals.
Conducted at DNA Labs UAE, a leading facility in genetic testing, the test involves analyzing the patient's DNA to search for specific mutations in the AHI1 gene that are known to cause Joubert Syndrome Type 3. The process is meticulous, ensuring high accuracy and reliability in the results.
The cost of the AHI1 Gene Joubert Syndrome Type 3 Genetic Test is set at 4400 AED. This price reflects the sophisticated technology and expertise required to perform the test, including the analysis and interpretation of the results. For families and individuals facing the possibility of Joubert Syndrome Type 3, this test offers a critical pathway to understanding their genetic health, enabling informed decisions about care and management of the condition.
The CEP290 gene plays a crucial role in the development and function of various cell types, including those necessary for proper brain, retinal, and kidney function. Mutations in the CEP290 gene are linked to Joubert Syndrome Type 5, a rare genetic disorder characterized by the underdevelopment of the cerebellum and brain stem, leading to a range of symptoms such as coordination and balance problems, abnormal eye movements, and intellectual disability.
To diagnose this specific subtype of Joubert Syndrome, genetic testing is essential. DNA Labs UAE offers a specialized genetic test targeting the CEP290 gene to identify mutations associated with Joubert Syndrome Type 5. This test is crucial for accurate diagnosis, allowing for tailored management and treatment plans for affected individuals.
The cost of the CEP290 gene test for Joubert Syndrome Type 5 at DNA Labs UAE is 4400 AED. This investment covers the sophisticated techniques used to analyze the gene for mutations and the professional expertise required to interpret the results accurately. The outcome of this test not only aids in the diagnosis but also helps in understanding the risk of passing the condition to future generations, making it a valuable tool for affected families.
The TMEM67 gene plays a crucial role in the development and function of primary cilia, which are vital for cellular signaling pathways. Mutations in the TMEM67 gene are associated with Joubert Syndrome Type 6, a rare genetic disorder characterized by the malformation of brain structures, leading to developmental delays, coordination problems, and distinctive facial features. To diagnose this condition, genetic testing is available at DNA Labs UAE, specifically targeting the TMEM67 gene mutations. The test is priced at 4400 AED and is conducted in a state-of-the-art laboratory environment, ensuring accurate and reliable results. This genetic test is a crucial step in confirming the diagnosis of Joubert Syndrome Type 6, allowing for appropriate management and care planning for affected individuals.
The RPGRIP1L gene plays a crucial role in the development and function of primary cilia, which are essential for cell signaling pathways. Mutations in the RPGRIP1L gene are associated with Joubert Syndrome Type 7, a rare genetic disorder characterized by the malformation of the cerebellum and brainstem, leading to a range of developmental and neurological symptoms including ataxia, hypotonia, and intellectual disability.
To diagnose this specific type of Joubert Syndrome, genetic testing targeting the RPGRIP1L gene is essential. DNA Labs UAE offers a comprehensive genetic test for Joubert Syndrome Type 7, focusing on identifying mutations within the RPGRIP1L gene. The test is crucial for accurate diagnosis, guiding treatment plans, and providing vital information for family planning.
The cost of the RPGRIP1L gene test at DNA Labs UAE is 4400 AED. This investment covers the sophisticated process of analyzing the gene for mutations known to cause Joubert Syndrome Type 7. By opting for this test, patients and their families can gain a deeper understanding of the condition, enabling informed decisions regarding management and care.
The ARL13B gene plays a crucial role in the development and function of primary cilia, which are small, antenna-like structures protruding from the surface of many types of cells. Mutations in the ARL13B gene have been associated with Joubert Syndrome Type 8, a rare genetic disorder characterized by a variety of symptoms including developmental delays, coordination problems, and distinctive facial features. The syndrome is part of a broader category of disorders known as ciliopathies, which are caused by dysfunction of the primary cilia.
To diagnose Joubert Syndrome Type 8 and to help in the management and treatment of the condition, genetic testing of the ARL13B gene can be conducted. In the UAE, DNA Labs UAE offers a comprehensive genetic test for this purpose. The test is designed to identify mutations in the ARL13B gene that are indicative of Joubert Syndrome Type 8. This is crucial for accurate diagnosis, family planning, and to guide medical care.
The cost of the ARL13B gene Joubert Syndrome Type 8 genetic test at DNA Labs UAE is 4400 AED. The test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory for the presence of mutations in the ARL13B gene. Results from the test can provide valuable information for affected individuals and their families, including insights into the prognosis of the disorder and potential treatment options.
