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PHYH Gene Refsum Disease Genetic Test Cost
The PHYH Gene Refsum Disease Genetic Test is a specialized diagnostic assessment available at DNA Labs UAE, designed to detect mutations in the PHYH gene, which are indicative of Refsum Disease. This rare genetic disorder disrupts the normal breakdown of phytanic acid, a type of fatty acid found in the diet, leading to its accumulation in the body. The accumulation can cause a variety of symptoms, including vision and hearing loss, impaired coordination, and muscle weakness. The test, priced at 4400 AED, involves analyzing the patient's DNA to identify any genetic variations in the PHYH gene that are known to cause the condition. Early detection through this genetic testing is crucial for managing symptoms and preventing the progression of the disease. DNA Labs UAE provides this service with the aim of offering precise diagnostics to facilitate targeted interventions for individuals at risk of or suspected to have Refsum Disease.
CYP2R1 Gene Rickets Vitamin D 25-Hydroxylation-Deficient Type 1B Genetic Test Cost
The CYP2R1 gene plays a critical role in the metabolism of vitamin D, specifically in the process of 25-hydroxylation, a crucial step in converting vitamin D to its active form in the body. Mutations in the CYP2R1 gene can lead to Vitamin D 25-Hydroxylation-Deficient Rickets Type 1B, a rare genetic disorder characterized by impaired bone growth and development due to the body's inability to properly metabolize vitamin D. This condition highlights the importance of vitamin D in maintaining healthy bone structure and the potential consequences of its deficiency. To diagnose this condition, a genetic test can be conducted to identify mutations in the CYP2R1 gene. In the UAE, this specific test is available at DNA Labs UAE, a facility known for its comprehensive genetic testing services. The cost of the CYP2R1 Gene Rickets Vitamin D 25-Hydroxylation-Deficient Type 1B Genetic Test is 4400 AED. This test is crucial for early detection and management of the disorder, allowing for appropriate treatment strategies to be implemented, which may include vitamin D supplementation or other interventions to support bone health and development.
AASS Gene Saccharopinuria Genetic Test Cost
Title: AASS Gene Saccharopinuria Genetic Test at DNA Labs UAE Description: The AASS Gene Saccharopinuria Genetic Test is a specialized diagnostic procedure available at DNA Labs UAE, designed to identify mutations in the AASS gene, which are linked to Saccharopinuria, a rare inherited metabolic disorder. This condition results from the body's inability to properly process the amino acids lysine and tryptophan, leading to an accumulation of saccharopine in the urine. Symptoms can vary but may include developmental delay, neurological issues, and other metabolic complications. DNA Labs UAE offers this comprehensive genetic testing service to individuals who may be at risk of having Saccharopinuria or are experiencing symptoms related to the disorder. The test is conducted with high precision and accuracy, providing crucial information for the diagnosis, treatment planning, and genetic counseling of affected individuals or families. The cost of the AASS Gene Saccharopinuria Genetic Test is 4400 AED. Given the specialized nature of this test, it represents a critical investment in understanding and managing potential health concerns related to Saccharopinuria. Clients can expect a seamless testing process, supported by DNA Labs UAE's state-of-the-art facilities and a team of experienced genetic specialists committed to delivering comprehensive and confidential care. For anyone considering this test, it's a step towards gaining valuable insights into their genetic health, enabling informed decisions about their well-being and future.
HEXB Gene Sandhoff Disease Genetic Test Cost
The HEXB gene Sandhoff disease genetic test is a specific diagnostic tool used to detect mutations in the HEXB gene, which are responsible for causing Sandhoff disease. Sandhoff disease is a rare, inherited disorder characterized by the progressive destruction of nerve cells in the brain and spinal cord. It is classified under a group of disorders known as lysosomal storage diseases, where harmful quantities of lipids accumulate in cells due to enzyme deficiencies. The test involves analyzing the patient's DNA to identify any genetic alterations in the HEXB gene, which encodes the beta-subunit of the hexosaminidase A and B enzymes. Deficiencies in these enzymes lead to the accumulation of GM2 gangliosides, a type of lipid, in the neurons, causing the symptoms associated with Sandhoff disease. This genetic test is crucial for the early diagnosis of Sandhoff disease, allowing for potential treatment options to be considered and genetic counseling for affected families. The test is available at DNA Labs UAE, a reputable laboratory known for its advanced genetic testing services. The cost of the HEXB gene Sandhoff disease genetic test at DNA Labs UAE is 3200 AED. Early diagnosis through this test can be vital for managing symptoms and improving the quality of life for those affected by the disease.
SARDH Gene Sarcosinemia Genetic Test Cost
The SARDH Gene Sarcosinemia Genetic Test is a specialized diagnostic procedure designed to detect mutations in the SARDH gene, which are associated with the rare metabolic disorder known as sarcosinemia. This condition involves the accumulation of sarcosine, an intermediate compound in the metabolism of choline to glycine, in the blood and urine due to a deficiency in sarcosine dehydrogenase, the enzyme encoded by the SARDH gene. Individuals with sarcosinemia may exhibit a range of symptoms from asymptomatic to more severe neurological and developmental issues, making early detection and management crucial. The test is conducted at DNA Labs UAE, a leading provider of genetic testing services in the United Arab Emirates. Utilizing advanced genetic sequencing technologies, the laboratory offers precise and reliable results, aiding in the accurate diagnosis of sarcosinemia. This is particularly important for families with a history of the condition or for individuals presenting symptoms that could suggest a metabolic disorder. The cost of the SARDH Gene Sarcosinemia Genetic Test is set at 4400 AED. While the price may seem steep, it reflects the specialized nature of the test and the sophisticated technology employed to achieve accurate diagnoses. For patients and families, the test offers invaluable insights into a condition that, when properly managed, can lead to improved health outcomes and quality of life.
IDUA Gene Scheie Syndrome Genetic Test Cost
The IDUA Gene Scheie Syndrome Genetic Test is a specialized diagnostic tool offered by DNA Labs UAE, designed to identify mutations in the IDUA gene, which are associated with Scheie Syndrome. Scheie Syndrome is the mildest form of Mucopolysaccharidosis Type I (MPS I), a rare lysosomal storage disorder that affects the body's ability to break down certain complex carbohydrates, leading to a wide range of symptoms, including vision problems, stiff joints, and heart disease. This genetic test is crucial for early detection and management of Scheie Syndrome, enabling healthcare providers to develop a tailored treatment plan to manage symptoms and improve quality of life for affected individuals. The process involves a simple blood draw or cheek swab, which is then analyzed in the state-of-the-art facilities of DNA Labs UAE. The cost of the IDUA Gene Scheie Syndrome Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to accurately identify the presence of mutations in the IDUA gene. Early and precise diagnosis through this genetic test can be instrumental in mitigating the progression of Scheie Syndrome and enhancing the overall well-being of those affected.
NAGA Gene Schindler Disease Genetic Test Cost
The NAGA Gene Schindler Disease Genetic Test is a specialized diagnostic procedure offered by DNA Labs UAE, aimed at detecting mutations in the NAGA gene that are associated with Schindler Disease. Schindler Disease is a rare genetic disorder characterized by a deficiency of the enzyme alpha-N-acetylgalactosaminidase, leading to a wide range of symptoms including developmental delay, neurological deterioration, and other systemic manifestations. The test involves collecting a DNA sample, usually through a blood draw, and analyzing it for specific genetic mutations in the NAGA gene. The cost of the NAGA Gene Schindler Disease Genetic Test at DNA Labs UAE is 4400 AED. This test is crucial for families with a history of Schindler Disease or for individuals showing symptoms of the disorder, as early diagnosis can help in managing the symptoms and improving the quality of life. DNA Labs UAE employs advanced genetic testing technologies to ensure accurate and reliable results, providing essential information for the diagnosis, treatment, and potential prevention of Schindler Disease.
ALDH5A1 Gene Succinic semialdehyde dehydrogenase deficiency Genetic Test Cost
The ALDH5A1 gene is responsible for encoding the enzyme succinic semialdehyde dehydrogenase (SSADH), which plays a crucial role in the degradation pathway of the neurotransmitter gamma-aminobutyric acid (GABA) within the brain. Deficiency in SSADH activity, due to mutations in the ALDH5A1 gene, leads to a rare but serious disorder known as succinic semialdehyde dehydrogenase deficiency (SSADHD). This condition is characterized by a range of neurological symptoms, including developmental delays, motor dysfunction, speech and language deficits, and, in some cases, seizures. To diagnose this genetic disorder, a specific test can be conducted that examines the ALDH5A1 gene for mutations known to cause SSADHD. This genetic test is a critical tool for confirming the diagnosis, allowing for early intervention and management of the condition. In the United Arab Emirates, this vital genetic test is available at DNA Labs UAE, a leading facility in genetic diagnostics. The cost of the test is 4400 AED. Conducting the test at DNA Labs UAE ensures that individuals receive accurate and reliable results, thanks to the lab's commitment to employing advanced genetic testing technologies and its team of experienced genetic specialists. Early diagnosis through this test can significantly impact the management of the condition, improving the quality of life for those affected by SSADHD.
