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SMPD1 Gene Niemann-Pick Disease Type AB Genetic Test Cost
The SMPD1 gene Niemann-Pick disease Type AB genetic test is a specialized diagnostic procedure offered by DNA Labs UAE, aimed at identifying mutations in the SMPD1 gene, which are responsible for Niemann-Pick disease types A and B. Niemann-Pick disease is a rare, inherited lipid storage disorder that affects the body's ability to metabolize fat within cells, leading to harmful accumulations that can impair health and organ function, particularly in the liver, spleen, and brain. Type A Niemann-Pick disease is characterized by severe neurodegeneration in early childhood, while Type B presents with less severe symptoms, mainly affecting the spleen and liver, and does not typically involve the nervous system. Both conditions, however, stem from a deficiency in the enzyme acid sphingomyelinase, due to mutations in the SMPD1 gene. The genetic test provided by DNA Labs UAE involves collecting a DNA sample, usually through a blood draw or cheek swab, to analyze the SMPD1 gene for specific mutations. This test is crucial for the accurate diagnosis of Niemann-Pick disease types A and B, enabling early intervention, management strategies, and genetic counseling for affected individuals and their families. The cost of the SMPD1 gene Niemann-Pick disease Type AB genetic test at DNA Labs UAE is 4400 AED. This investment covers the full process of the genetic analysis, from sample collection to the provision of a detailed report, which includes interpretation of the results by qualified professionals. Early diagnosis through this test can be pivotal in managing the disease's progression and improving the quality of life for those affected.
NPC1 Gene Niemann-Pick Disease Type C1 Genetic Test Cost
The NPC1 Gene Niemann-Pick Disease Type C1 Genetic Test is a specialized diagnostic tool used to detect mutations in the NPC1 gene, which are responsible for Niemann-Pick disease type C1, a rare and progressive genetic disorder. This condition is characterized by the accumulation of cholesterol and other fats in various tissues of the body, leading to symptoms such as difficulty in movement, liver dysfunction, and cognitive impairment. The test is crucial for early diagnosis and management of the disease, allowing for appropriate therapeutic interventions and genetic counseling for affected families. Performed at DNA Labs UAE, a leading facility in genetic testing, this test offers a comprehensive analysis of the NPC1 gene to identify any genetic mutations associated with the condition. The cost of the test is 4400 AED, reflecting the sophisticated technology and expertise required to accurately diagnose this complex disorder. By opting for this test, individuals with a family history of Niemann-Pick disease type C1 can gain valuable insights into their genetic health, enabling informed decisions regarding their future and that of their families.
NPC2 Gene Niemann-Pick Disease Type C2 Genetic Test Cost
The NPC2 Gene Niemann-Pick Disease Type C2 Genetic Test is a specialized diagnostic procedure designed to detect mutations in the NPC2 gene, which are responsible for Niemann-Pick disease type C2 (NPC2). This condition is a rare, genetic lysosomal storage disorder characterized by the accumulation of lipids in various tissues, including the brain, liver, and spleen, leading to neurological dysfunction and other systemic symptoms. Early detection through genetic testing can be crucial for management and treatment options. Conducted at DNA Labs UAE, a leading facility in genetic diagnostics, the test offers a comprehensive analysis of the NPC2 gene to identify any genetic mutations associated with the disease. With a cost of 4400 AED, the test is aimed at individuals with a family history of Niemann-Pick disease or those exhibiting symptoms related to the disorder, providing them with crucial information for potential treatment plans and lifestyle adjustments. DNA Labs UAE employs state-of-the-art technology and expertise to ensure accurate and reliable test results, contributing significantly to the understanding and management of this rare condition.
ALPL Gene Odontohypophosphatasia Genetic Test Cost
The ALPL Gene Odontohypophosphatasia Genetic Test is a specialized diagnostic procedure aimed at identifying mutations in the ALPL gene, which are associated with odontohypophosphatasia, a rare genetic condition. This condition primarily affects dental health, leading to abnormal tooth development, premature tooth loss, and potentially impacting bone mineralization to a lesser extent compared to other forms of hypophosphatasia. The ALPL gene plays a critical role in producing alkaline phosphatase, an enzyme essential for bone mineralization and dental health. Mutations in this gene can lead to reduced enzyme activity, causing the symptoms associated with odontohypophosphatasia. Conducted at DNA Labs UAE, a facility known for its advanced genetic testing capabilities, the test offers a comprehensive analysis of the ALPL gene to identify specific genetic mutations. The test is crucial for early diagnosis, allowing for timely intervention and management strategies to mitigate the impact of the condition. With a cost of 4400 AED, the test is an investment in understanding and potentially improving the quality of life for individuals with suspected odontohypophosphatasia through personalized care plans based on their genetic makeup.
UMPS Gene Orotic Aciduria Genetic Test Cost
The UMPS Gene Orotic Aciduria Genetic Test is a specialized diagnostic procedure designed to detect mutations in the UMPS gene, which are responsible for the rare metabolic disorder known as orotic aciduria. This condition affects the body's ability to metabolize certain proteins, leading to an accumulation of orotic acid in the blood and urine, which can cause a variety of health issues including growth retardation, anemia, and urinary tract problems. Early detection through genetic testing is crucial for managing symptoms and preventing complications. The test involves analyzing the patient's DNA to identify any genetic abnormalities in the UMPS gene, which encodes the enzyme uridine monophosphate synthetase, essential for the proper metabolism of pyrimidine, a component of DNA and RNA. A mutation in this gene disrupts the normal process, leading to the symptoms associated with orotic aciduria. Conducted at DNA Labs UAE, a leading facility in genetic diagnostics, the UMPS Gene Orotic Aciduria Genetic Test is available for a cost of 4400 AED. The lab employs state-of-the-art technology and methodologies to ensure accurate and reliable results, providing essential information for the appropriate management and treatment of individuals with orotic aciduria.
PTF1A Gene Pancreatic and Cerebellar Agenesis Genetic Test Cost
The PTF1A Gene Pancreatic and Cerebellar Agenesis Genetic Test is a specialized diagnostic assessment offered by DNA Labs UAE, designed to detect mutations in the PTF1A gene. This gene plays a critical role in the development of the pancreas and cerebellum during the early stages of embryonic development. Mutations in the PTF1A gene can lead to pancreatic agenesis, a condition where the pancreas fails to develop properly, and cerebellar agenesis, where the cerebellum is either underdeveloped or completely absent. These conditions can result in a range of health issues, including diabetes and neurological problems. The test involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in the laboratory to identify any genetic abnormalities in the PTF1A gene. It is particularly recommended for individuals with a family history of pancreatic or cerebellar agenesis, or for those exhibiting symptoms related to these conditions. At DNA Labs UAE, the cost of the PTF1A Gene Pancreatic and Cerebellar Agenesis Genetic Test is set at 4400 AED. This price includes the cost of the sample collection, genetic analysis, and a comprehensive report detailing the findings. The test provides crucial information that can assist healthcare providers in making informed decisions regarding the management and treatment of affected individuals, potentially improving their quality of life.
DCXR Gene Pentosuria Genetic Test Cost
The DCXR Gene Pentosuria Genetic Test is a specialized diagnostic procedure available at DNA Labs UAE, designed to identify mutations in the DCXR gene that are associated with the rare condition known as Pentosuria. This condition is characterized by the excessive excretion of xylulose, a type of sugar, in the urine due to a deficiency in the enzyme xylulose reductase, which is encoded by the DCXR gene. Individuals with Pentosuria may not exhibit significant clinical symptoms but can be mistakenly diagnosed with diabetes due to the presence of sugar in urine tests. The test, which costs 4400 AED, involves collecting a DNA sample from the patient, usually through a blood draw or a cheek swab, which is then analyzed in the laboratory to detect any genetic mutations in the DCXR gene. This precise genetic testing is crucial for accurate diagnosis, allowing for appropriate management and monitoring of the condition, and can also provide valuable information for family planning. DNA Labs UAE employs state-of-the-art technology and expertise to ensure reliable and accurate test results, making it a trusted choice for genetic testing in the region.
TNFRSF1A Gene Periodic Fever Autosomal Dominant Genetic Test Cost
The TNFRSF1A gene periodic fever autosomal dominant genetic test is a specialized diagnostic examination conducted to identify mutations in the TNFRSF1A gene, which are associated with the development of autosomal dominant periodic fever syndromes, such as Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS). TRAPS is a condition characterized by recurrent episodes of fever, abdominal pain, skin rashes, and muscle pain. It is important to diagnose this condition early to manage symptoms effectively and prevent potential complications. This genetic test is performed by analyzing the patient's DNA to detect mutations in the TNFRSF1A gene that are known to cause TRAPS. The test is crucial for individuals with a family history of periodic fever syndromes or those exhibiting symptoms suggestive of TRAPS, as it helps in confirming the diagnosis and facilitating appropriate treatment and management strategies. The test is available at DNA Labs UAE, a leading provider of genetic testing services in the United Arab Emirates. DNA Labs UAE employs state-of-the-art technology and follows stringent protocols to ensure accurate and reliable test results. The cost of the TNFRSF1A gene periodic fever autosomal dominant genetic test at DNA Labs UAE is 4400 AED. Given the complexity of genetic testing and the specific expertise required to interpret the results, the cost reflects the comprehensive nature of the service, including pre-test counseling, the testing procedure itself, and post-test interpretation and guidance.
