The B4GALT1 Gene Glycosylation Disorder Type 2D Genetic Test is a specialized diagnostic procedure aimed at identifying mutations in the B4GALT1 gene, which are associated with Congenital Disorders of Glycosylation (CDG). CDG Type 2D is a rare genetic condition that affects the body's ability to properly glycosylate proteins and lipids, crucial processes for normal cellular function. This disorder can lead to a wide range of symptoms, including developmental delay, neurological issues, and problems with the digestive system, among others.
The test involves collecting a DNA sample, usually through a blood draw, which is then analyzed in a laboratory setting to detect any genetic anomalies in the B4GALT1 gene. This specific testing is available 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 B4GALT1 Gene Glycosylation Disorder Type 2D Genetic Test at DNA Labs UAE is 4400 AED. This price reflects the comprehensive nature of the test, including the advanced technology and professional expertise required to accurately identify mutations in the B4GALT1 gene. For families and individuals facing the possibility of CDG Type 2D, this test offers a crucial step towards obtaining a definitive diagnosis, which is essential for managing the condition and improving quality of life.
The COG7 Gene Glycosylation Disorder Type 2E Genetic Test is a specialized diagnostic examination conducted to identify mutations in the COG7 gene, which can lead to Congenital Disorders of Glycosylation Type IIe (CDG-IIe). These disorders are a group of inherited conditions that affect the normal process of glycosylation - the addition of sugar chains to proteins and lipids, which is crucial for their proper function. Symptoms of CDG-IIe can vary but often include developmental delay, neurological issues, and abnormalities in liver function.
The test is specifically designed to detect genetic anomalies within the COG7 gene by analyzing the patient's DNA, helping in the accurate diagnosis of the disorder. This is crucial for the management and treatment of the condition, allowing healthcare providers to tailor interventions according to the individual's genetic makeup.
The test is available at DNA Labs UAE, a leading facility in genetic testing and diagnostics. The cost of the COG7 Gene Glycosylation Disorder Type 2E Genetic Test is 4400 AED. This investment in health enables patients and their families to gain valuable insights into their genetic conditions, facilitating informed decisions regarding healthcare and potential treatments.
The SLC35A1 gene glycosylation disorder, also known as Congenital Disorder of Glycosylation Type 2F (CDG2F), is a rare genetic condition characterized by defects in the glycosylation process. Glycosylation is a critical biological process where sugars are attached to proteins and lipids, affecting their stability and function. Mutations in the SLC35A1 gene disrupt this process, leading to a wide range of symptoms, including developmental delay, neurological issues, and problems with the digestive system.
To diagnose this condition, a genetic test focusing on the SLC35A1 gene can be conducted. In the United Arab Emirates, DNA Labs UAE offers this specialized test. The test is designed to identify mutations in the SLC35A1 gene that are responsible for the glycosylation disorder Type 2F. The cost of the test is 4400 AED, making it accessible to those who suspect they or their family members might be affected by this rare genetic disorder. Conducting the test can provide crucial information for the diagnosis, management, and treatment of the condition, helping affected individuals and their families to navigate the challenges associated with CDG2F.
The COG1 Gene Glycosylation Disorder Type 2G Genetic Test is a specialized diagnostic tool offered by DNA Labs UAE, designed to identify mutations in the COG1 gene. These mutations are responsible for a rare condition known as Congenital Disorders of Glycosylation Type 2G (CDG2G), which affects the body's ability to properly glycosylate proteins and lipids, crucial processes for normal cellular function. Symptoms of CDG2G can vary widely among individuals but may include developmental delay, neurological issues, and abnormalities in liver function.
This genetic test involves analyzing the patient's DNA to look for specific mutations in the COG1 gene that are indicative of CDG2G. The test is crucial for confirming a diagnosis, which can then guide treatment plans and help families understand the prognosis and potential genetic counseling needs.
The cost of the COG1 Gene Glycosylation Disorder Type 2G Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the technical process of isolating DNA from the patient's sample, conducting the genetic analysis, and interpreting the results to provide a comprehensive report. The test is conducted in the state-of-the-art facilities of DNA Labs UAE, ensuring high-quality standards and accuracy in the diagnostic process.
The "COG8 Gene Glycosylation Disorder Type 2H Genetic Test" is a specialized diagnostic tool available at DNA Labs UAE, designed to identify mutations in the COG8 gene, which are responsible for a rare genetic disorder known as Congenital Disorders of Glycosylation Type 2H (CDG2H). This condition is part of a larger group of diseases that affect the glycosylation process, a critical biochemical pathway responsible for adding sugar molecules to proteins and lipids, which is essential for their proper function. Mutations in the COG8 gene disrupt this process, leading to a wide range of symptoms that can include developmental delay, neurological issues, and abnormalities in liver function, among others.
The test is priced at 4400 AED and involves collecting a DNA sample, usually through a blood draw, which is then analyzed in the laboratory to detect any genetic alterations in the COG8 gene. DNA Labs UAE employs state-of-the-art genetic sequencing technologies to ensure accurate and reliable results, which are crucial for the diagnosis and management of this complex disorder. Early detection through genetic testing can significantly benefit affected individuals by enabling timely intervention and personalized treatment plans, ultimately improving the quality of life for those diagnosed with CDG2H.
The GLB1 gene GM1-gangliosidosis genetic test is a specialized diagnostic procedure aimed at detecting mutations in the GLB1 gene, which are responsible for GM1-gangliosidosis. GM1-gangliosidosis is a rare inherited disorder that affects the brain and other organs, leading to severe neurological impairment. The condition is categorized into three types, varying in severity and age of onset, from infancy to adulthood.
The test involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in a laboratory to identify any genetic abnormalities in the GLB1 gene. This gene encodes the enzyme beta-galactosidase, essential for the breakdown of GM1 gangliosides. Mutations in this gene lead to the accumulation of GM1 gangliosides in tissues, causing the symptoms associated with GM1-gangliosidosis.
At DNA Labs UAE, the GLB1 gene GM1-gangliosidosis genetic test is available for individuals who may be at risk of this condition, either due to family history or clinical symptoms suggestive of the disease. The test is priced at 4400 AED and is conducted with the utmost confidentiality and accuracy, providing crucial information for diagnosis, management, and genetic counseling of affected individuals and their families.
RNF216 Gene Gordon Holmes Syndrome Genetic Test is a specialized genetic assessment conducted at DNA Labs UAE, designed to diagnose Gordon Holmes syndrome, a rare neurological condition. This syndrome is characterized by a combination of cerebellar ataxia, which affects coordination and balance, and hypogonadotropic hypogonadism, a condition related to reproductive system development and function. The test specifically targets mutations in the RNF216 gene, which have been linked to the syndrome, providing crucial information for accurate diagnosis and management.
The process involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the lab for the presence of mutations in the RNF216 gene. This genetic insight is pivotal for families and individuals in understanding the condition, potential treatments, and implications for family planning.
The cost of the RNF216 Gene Gordon Holmes Syndrome Genetic Test at DNA Labs UAE is set at 4400 AED. This price reflects the comprehensive nature of the test, including the advanced genetic sequencing and analysis required to identify the specific gene mutations associated with Gordon Holmes syndrome. Individuals considering this test are advised to consult with a healthcare provider or genetic counselor to understand its benefits, limitations, and the significance of the results in the context of their personal health and family history.
The RAB27A gene Griscelli Syndrome Type 2 Genetic Test is a specialized diagnostic procedure designed to identify mutations in the RAB27A gene, which are indicative of Griscelli Syndrome Type 2 (GS2). GS2 is a rare genetic disorder characterized by partial albinism, immune system abnormalities, and, in many cases, neurological issues. The condition is inherited in an autosomal recessive manner, meaning that two copies of the defective gene, one from each parent, are required for a child to be affected.
The test is particularly vital for families with a history of GS2 or those who have children showing symptoms related to the syndrome. Early diagnosis through genetic testing can be crucial for managing the condition, as it allows for timely intervention to manage symptoms and prevent complications, especially those related to the immune system.
DNA Labs UAE offers this genetic test, providing a reliable and accurate diagnosis for those suspected of having Griscelli Syndrome Type 2. The cost of the test is set at 4400 AED. Conducting the test at DNA Labs UAE ensures that patients and their families receive comprehensive support, from the initial consultation through to the interpretation of results and guidance on subsequent steps. This service is particularly valuable given the complexity of genetic conditions and the specialized care required for individuals diagnosed with GS2.
The TBC1D24 gene is associated with various forms of epilepsy and neurodegenerative diseases. Familial Infantile Myoclonic Epilepsy (FIME) is a rare epilepsy syndrome characterized by myoclonic seizures, often accompanied by other seizure types, and can be linked to mutations in the TBC1D24 gene. Genetic testing for mutations in the TBC1D24 gene can provide crucial information for the diagnosis and management of individuals and families affected by FIME.
DNA Labs UAE offers a genetic test specifically designed to identify mutations in the TBC1D24 gene that are associated with Familial Infantile Myoclonic Epilepsy. The test is priced at 4400 AED and involves analyzing the patient's DNA to detect the presence of any genetic alterations in the TBC1D24 gene that may contribute to the condition. This test is particularly important for families with a history of FIME, as it can help in understanding the risk for current or future offspring and in making informed decisions regarding family planning. Additionally, the results from this test can guide healthcare professionals in tailoring the most appropriate treatment and management plan for affected individuals, potentially improving outcomes and quality of life.
The PRNP Gene Fatal Familial Insomnia Genetic Test is a specialized diagnostic procedure offered by DNA Labs UAE, aimed at detecting mutations in the PRNP gene that are associated with Fatal Familial Insomnia (FFI). FFI is a rare genetic disorder characterized by an inability to sleep that may lead to significant physical and mental health issues, ultimately proving fatal. The condition is inherited in an autosomal dominant pattern, meaning a mutation in just one copy of the gene is sufficient to cause the disorder.
This test involves collecting a DNA sample, typically through a blood draw or a cheek swab, and analyzing it for specific genetic mutations in the PRNP gene known to cause FFI. Identifying these mutations can confirm a diagnosis of FFI, which is crucial for affected individuals and their families to understand the nature of the illness, its progression, and to make informed decisions regarding management and genetic counseling.
The cost of the PRNP Gene Fatal Familial Insomnia Genetic Test at DNA Labs UAE is 4400 AED. Given the complexity of the test and the need for specialized equipment and expertise to interpret the results accurately, the cost reflects the comprehensive service provided, including pre-test counseling, the testing procedure itself, and post-test counseling to discuss the results.
