The EXOC8 gene is associated with Joubert syndrome, a rare genetic disorder characterized by the malformation of the cerebellum and brainstem, leading to a range of developmental delays and neurological issues. The disorder falls under a group of conditions known as ciliopathies, which are caused by defects in the structure or function of cilia, the microscopic cellular antennae vital for communication and signaling.
Given the genetic basis of Joubert syndrome, identifying mutations in genes like EXOC8 is crucial for diagnosis, understanding the disease's progression, and potential management strategies. The EXOC8-related genetic test is a sophisticated diagnostic tool designed to detect mutations in the EXOC8 gene, thereby confirming the diagnosis of Joubert syndrome and assisting in the formulation of a personalized treatment plan.
This specific genetic test is available at DNA Labs UAE, a facility renowned for its advanced genetic testing services. The cost of the EXOC8 gene test is set at 4400 AED. This investment covers the collection of a DNA sample, usually through a blood draw or cheek swab, the analysis of the EXOC8 gene for any mutations, and a comprehensive report that interprets the findings. Given the complexity of genetic disorders like Joubert syndrome, the availability of such targeted genetic testing is invaluable for affected families, offering them insights into the condition and guiding them towards appropriate medical and supportive care.
The EXOSC8 gene is associated with Joubert syndrome, a rare genetic disorder characterized by the underdevelopment of the cerebellum and brainstem, leading to coordination and developmental delays among other symptoms. Mutations in the EXOSC8 gene can cause a specific form of this syndrome, making genetic testing a crucial step for accurate diagnosis and management.
At DNA Labs UAE, individuals suspected of having Joubert syndrome related to the EXOSC8 gene mutation can undergo a specialized genetic test. This test is meticulously designed to detect mutations in the EXOSC8 gene, providing essential information for confirming the diagnosis, understanding the prognosis, and making informed decisions about treatment and management.
The cost of the EXOSC8 related 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 lab using advanced genetic sequencing techniques. The results of this test not only help in diagnosing Joubert syndrome caused by EXOSC8 mutations but also enable genetic counseling for families, offering insights into the risk of passing the condition to future generations.
Given the complexity and rarity of the condition, this genetic testing is a valuable resource for affected individuals and their families, providing them with critical information for managing the syndrome effectively.
The KDM6A gene is associated with Kabuki syndrome type 2, a rare genetic disorder characterized by distinctive facial features, growth delays, intellectual disability, and various organ anomalies. Genetic testing for mutations in the KDM6A gene can confirm a diagnosis of Kabuki syndrome type 2, aiding in the management and treatment of the condition. At DNA Labs UAE, a specialized test is available to analyze the KDM6A gene for mutations linked to this syndrome. The cost of the test is 4400 AED. This precise genetic testing provides critical information for families and healthcare providers, facilitating personalized care plans and interventions for affected individuals.
The FAM111A Gene Kenny-Caffey Syndrome Type 2 Genetic Test is a specialized diagnostic tool offered by DNA Labs UAE, designed to identify mutations in the FAM111A gene, which are associated with Kenny-Caffey Syndrome Type 2 (KCS2). KCS2 is a rare genetic disorder characterized by growth retardation, cortical thickening of tubular bones, delayed closure of the fontanelles, and hypocalcemia with normal parathyroid hormone levels. The condition is inherited in an autosomal dominant manner, meaning a mutation in just one of the two copies of the gene is sufficient to cause the disorder.
This genetic test involves analyzing the patient's DNA to detect mutations in the FAM111A gene, providing essential information for the accurate diagnosis and management of Kenny-Caffey Syndrome Type 2. Early diagnosis through genetic testing can facilitate timely intervention, including management of symptoms and counseling for families regarding the risk of passing the condition to future generations.
The test is conducted at DNA Labs UAE, a leading provider of genetic testing services in the United Arab Emirates, known for its state-of-the-art facilities and expertise in genetic diagnostics. The cost of the FAM111A Gene Kenny-Caffey Syndrome Type 2 Genetic Test is 4400 AED, reflecting the comprehensive analysis and detailed reporting provided by the lab to ensure accurate diagnosis and optimal patient care.
The RYR1 gene plays a crucial role in skeletal muscle function, and mutations in this gene can lead to King-Denborough Syndrome (KDS), a rare genetic disorder characterized by muscle weakness, skeletal abnormalities, and susceptibility to malignant hyperthermia. The King-Denborough Syndrome Genetic Test is a specialized examination aimed at detecting mutations in the RYR1 gene to confirm a diagnosis of KDS. This test is particularly important for individuals showing symptoms of the syndrome or those with a family history of malignant hyperthermia. Conducted at DNA Labs UAE, a leading facility in genetic diagnostics, the test ensures precision and reliability in results. The cost of the test is set at 4400 AED, reflecting the intricate technology and expertise required to accurately identify the genetic alterations associated with King-Denborough Syndrome.
The ROGDI Gene Kohlschutter-Tonz Syndrome Genetic Test is a specialized diagnostic procedure available at DNA Labs UAE, designed to identify mutations in the ROGDI gene, which are linked to Kohlschutter-Tonz Syndrome (KTS). KTS is a rare genetic disorder characterized by the combination of amelogenesis imperfecta (imperfect formation of tooth enamel), epilepsy, and progressive neurodegeneration leading to intellectual disability. The test plays a crucial role in the early diagnosis and management of the syndrome, enabling targeted treatment plans and genetic counseling for affected families.
Priced at 4400 AED, the test involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in the laboratory to detect the presence of specific mutations in the ROGDI gene. By pinpointing these genetic alterations, the test provides conclusive evidence for the diagnosis of Kohlschutter-Tonz Syndrome, guiding healthcare providers in offering the most appropriate care and support for patients and their families.
The GALC Gene Krabbe Disease Genetic Test is a specialized diagnostic tool designed to detect mutations in the GALC gene, which are responsible for Krabbe disease. Krabbe disease is a rare, inherited disorder that affects the nervous system and is caused by the deficiency of an enzyme known as galactocerebrosidase. This deficiency leads to the accumulation of harmful substances in the brain and throughout the body, resulting in severe neurological impairment.
Conducted at DNA Labs UAE, this genetic test is crucial for early detection, allowing for timely intervention and management of the condition. By analyzing a small sample of the patient's DNA, the test can identify specific mutations in the GALC gene, providing vital information for families and healthcare providers.
The cost of the GALC Gene Krabbe Disease Genetic Test at DNA Labs UAE is 4400 AED. Given the complexity and the specialized nature of this genetic testing, the price reflects the advanced technology and expertise required to accurately identify the mutations associated with Krabbe disease. Early detection through this test can significantly impact the course of the disease, offering a better quality of life for those affected.
The BCS1L gene Leigh syndrome genetic test is a specialized diagnostic examination aimed at detecting mutations in the BCS1L gene, which are associated with Leigh syndrome, a severe neurological disorder. This test is particularly important for families with a history of the condition or for individuals showing symptoms related to Leigh syndrome, such as developmental delay, movement disorders, and degeneration of the central nervous system. Conducted at DNA Labs UAE, a leading facility in genetic testing, this test provides crucial information that can aid in the diagnosis, management, and understanding of Leigh syndrome. The cost of the test is 4400 AED, reflecting the intricate technology and expertise required to accurately identify mutations in the BCS1L gene and provide individuals and families with essential genetic insights.
The COX15 gene Leigh syndrome genetic test is a specialized diagnostic procedure aimed at identifying mutations in the COX15 gene, which are associated with a rare neurometabolic disorder known as Leigh syndrome. This condition primarily affects the central nervous system, leading to severe neurological and developmental complications. The test is essential for confirming the diagnosis, enabling early intervention, and facilitating family planning decisions.
Conducted at DNA Labs UAE, a leading facility in genetic diagnostics, the test involves analyzing the patient's DNA to detect specific genetic alterations in the COX15 gene that are linked to the development of Leigh syndrome. The procedure is known for its accuracy and reliability, providing crucial information for managing the condition.
The cost of the COX15 gene Leigh syndrome genetic test at DNA Labs UAE is set at 4400 AED. This price reflects the sophisticated technology and expertise required to perform the analysis. Although the cost may be significant, the value of obtaining a precise diagnosis cannot be overstated, as it opens the door to targeted treatments and supports better outcomes for those affected by this challenging syndrome.
The FOXRED1 Gene Leigh Syndrome Genetic Test is a specialized diagnostic tool available at DNA Labs UAE, designed to identify mutations in the FOXRED1 gene, which are linked to Leigh syndrome. Leigh syndrome is a severe neurological disorder that typically emerges in the first year of life, characterized by progressive loss of mental and movement abilities. The test plays a crucial role in the early detection and management of this condition, allowing for personalized treatment plans that can significantly improve the quality of life for affected individuals. Priced at 4400 AED, this genetic test provides families with crucial information regarding the genetic underpinnings of Leigh syndrome, enabling informed decisions about care and support.
