The TCTN2 gene Joubert Syndrome Type 24 genetic test is a specialized diagnostic examination designed to detect mutations in the TCTN2 gene, which are associated with Joubert Syndrome Type 24. 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 in the brain structure known as the "molar tooth sign." This condition may lead to a variety of symptoms, including developmental delays, hypotonia, irregular breathing patterns, and abnormalities in eye and tongue movements.
The test, which is available at DNA Labs UAE, plays a crucial role in the early diagnosis and management of Joubert Syndrome Type 24. By identifying the specific genetic mutations present in the TCTN2 gene, healthcare providers can offer personalized treatment plans, conduct family genetic counseling, and predict the potential for disease recurrence in future pregnancies.
The cost of the TCTN2 gene Joubert Syndrome Type 24 genetic test at DNA Labs UAE is 4400 AED. This investment enables access to cutting-edge genetic testing technology, providing families and individuals with essential information for the proactive management of Joubert Syndrome Type 24, ultimately enhancing the quality of life for those affected by this rare condition.
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 "NPHP1 Gene Joubert Syndrome Type 4 Genetic Test" is a specialized diagnostic assessment conducted at DNA Labs UAE, designed to identify mutations in the NPHP1 gene, which are linked to Joubert Syndrome Type 4. This rare genetic disorder is characterized by a range of symptoms including coordination and developmental delays, abnormal eye movements, and the distinctive "molar tooth sign" visible on brain imaging, indicative of cerebellar and brainstem malformations. The test, priced at 4400 AED, is crucial for accurate diagnosis, enabling targeted management and genetic counseling for affected families. By analyzing a patient's DNA, the test can confirm the presence of the specific genetic alterations associated with this condition, guiding treatment plans and providing essential information for understanding the risk of recurrence in future pregnancies.
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.
The CC2D2A gene plays a crucial role in the development and function of cell structures that are vital for sensory perception and cell signaling. Mutations in this gene are linked to Joubert syndrome type 9, a rare genetic disorder characterized by the malformation of the cerebellum and brain stem, leading to a range of symptoms including coordination and developmental delays, abnormal eye movements, and breathing irregularities.
To diagnose this condition, a genetic test targeting the CC2D2A gene can be performed. This test involves analyzing the DNA to identify mutations in the CC2D2A gene that are indicative of Joubert syndrome type 9. It is a critical step for families seeking answers about this condition, as it can confirm a diagnosis and help in the management and treatment planning for affected individuals.
In the UAE, DNA Labs UAE offers this specific genetic test for Joubert syndrome type 9. The cost of the test is 4400 AED. DNA Labs UAE is equipped with state-of-the-art technology and staffed by experts in the field of genetic testing, ensuring accurate and reliable results for patients and their families. This test is an essential resource for those affected by or at risk of Joubert syndrome type 9, providing them with crucial information for their health management.
The "CIC Gene Intellectual Disability Nonsyndromic CIC Related Genetic Test" is a specialized diagnostic procedure offered by DNA Labs UAE, aimed at identifying mutations in the CIC gene that are associated with nonsyndromic intellectual disability. The CIC gene plays a critical role in brain development and function, and mutations in this gene can lead to various neurological and developmental issues, primarily intellectual disability that does not accompany other syndromic features. This test is particularly important for families with a history of intellectual disability or for individuals showing related symptoms, as it can provide a definitive genetic diagnosis.
Performed using advanced genomic sequencing technologies, this test scrutinizes the CIC gene for any abnormalities or mutations that might be responsible for the condition. Early detection through this genetic test can be crucial for the management and treatment of the condition, allowing for tailored interventions and support to improve the quality of life for those affected.
The cost of the test is set at 4400 AED, reflecting the intricate technology and expertise required to accurately identify mutations in the CIC gene. Conducted at DNA Labs UAE, a leading facility in genetic testing, clients are assured of precise results, confidentiality, and comprehensive support throughout the testing process. This test represents a significant step forward in the personalized diagnosis and management of intellectual disabilities, offering hope and answers to affected individuals and their families.
The CNKSR2 gene is associated with a form of intellectual disability known as nonsyndromic CNKSR2-related intellectual disability. This condition is characterized by developmental delays, speech and language impairments, and, in some cases, seizures. It is a genetic disorder that arises due to mutations in the CNKSR2 gene, which plays a crucial role in brain development and function.
To diagnose this condition, genetic testing is available at DNA Labs UAE, a facility equipped with advanced diagnostic technologies. The test specifically looks for mutations in the CNKSR2 gene that are known to cause the disorder. It is a critical step for families seeking answers about developmental issues in their children, as it can confirm the diagnosis and help guide management and intervention strategies.
The cost of the CNKSR2 gene intellectual disability nonsyndromic CNKSR2-related genetic test at DNA Labs UAE is 4400 AED. This investment includes the cost of the genetic analysis and the expertise required to interpret the results accurately. Getting a precise diagnosis can be invaluable for affected families, providing them with a clear understanding of the condition and how to best support their loved one.
