The SOX10 Gene Peripheral Demyelinating Neuropathy, Waardenburg Syndrome, and Hirschsprung Disease Genetic Test is a comprehensive diagnostic tool offered by DNA Labs UAE, designed to detect mutations in the SOX10 gene. These mutations are known to be associated with a range of conditions, including peripheral demyelinating neuropathy, Waardenburg Syndrome, and Hirschsprung Disease. The test is crucial for individuals who exhibit symptoms related to these conditions or have a family history, as it aids in confirming the diagnosis, understanding the risk of passing the genetic mutation to offspring, and making informed decisions about management and treatment options. The cost of the test is 4400 AED, reflecting the intricate technology and expertise required to accurately identify mutations in the SOX10 gene and provide reliable results.
The ARFGEF2 Gene Periventricular Heterotopia with Microcephaly Genetic Test is a specialized diagnostic examination offered by DNA Labs UAE, designed to identify mutations in the ARFGEF2 gene. These mutations are associated with the development of Periventricular Heterotopia (PH) accompanied by microcephaly, a rare genetic disorder. PH is characterized by the presence of nodules of neurons in inappropriate locations in the brain due to their failure to migrate to the correct positions during development. This condition can lead to a range of neurological issues, including seizures, developmental delay, and difficulties with coordination and balance. Microcephaly, on the other hand, is a condition where a baby's head is significantly smaller than expected, often due to abnormal brain development.
The test, which costs 4400 AED, involves collecting a DNA sample from the patient, usually through a blood draw or cheek swab, and analyzing it for specific mutations in the ARFGEF2 gene that are known to cause this complex condition. The results from this genetic testing can provide crucial information for the diagnosis, management, and understanding of the patient's condition. It can also offer valuable insights for family planning and genetic counseling for families affected by Periventricular Heterotopia with microcephaly. DNA Labs UAE is equipped with state-of-the-art technology and staffed by experienced professionals to ensure accurate and reliable testing results.
The PEX11B Gene Peroxisome Biogenesis Disorder 14B Genetic Test is a specialized diagnostic examination offered by DNA Labs UAE, designed to identify mutations in the PEX11B gene, which are linked to Peroxisome Biogenesis Disorder 14B (PBD14B). This rare genetic condition affects the body's ability to properly form and function peroxisomes, essential cellular components involved in various critical biochemical pathways, including lipid metabolism and the detoxification of harmful substances.
PBD14B manifests with a spectrum of clinical features, ranging from severe neurological impairments to more subtle physiological anomalies, depending on the nature and extent of the genetic mutation. Early and accurate diagnosis through the PEX11B gene test can facilitate timely intervention and management strategies, potentially improving the quality of life for affected individuals.
The test is conducted with a sample of the patient's DNA, extracted from a blood sample or cheek swab, and analyzed using advanced genetic sequencing techniques to detect mutations in the PEX11B gene. The cost of the test is 4400 AED, reflecting the sophisticated technology and expertise required to accurately identify the genetic alterations associated with this disorder.
DNA Labs UAE is at the forefront of genetic testing, offering this critical diagnostic tool as part of its comprehensive suite of genetic services. By providing this test, DNA Labs UAE supports the early detection and management of Peroxisome Biogenesis Disorder 14B, contributing to the broader effort to combat rare genetic diseases.
The "PEX3 Gene Peroxisome Biogenesis Disorder Type 10A Genetic Test" is a specialized diagnostic procedure offered by DNA Labs UAE, aimed at identifying mutations in the PEX3 gene. These mutations are associated with Peroxisome Biogenesis Disorder Type 10A (PBD10A), a rare genetic condition that affects the body's ability to produce peroxisomes. Peroxisomes are essential for various cellular functions, including lipid metabolism and the detoxification of harmful substances.
This genetic test is critical for early detection and management of PBD10A, enabling healthcare providers to develop a tailored treatment plan for affected individuals. The test involves collecting a DNA sample, typically through a blood draw, and analyzing the genetic material for specific mutations in the PEX3 gene.
Offered at a cost of 4400 AED, the test is conducted at DNA Labs UAE, a facility known for its advanced genetic testing services. The test's accuracy and the lab's reputation make it a valuable resource for families with a history of PBD10A or related symptoms, providing them with crucial information about their genetic health and guiding future medical decisions.
The PEX1 Gene Peroxisome Biogenesis Disorder Type 1B Genetic Test is a specialized diagnostic assessment available at DNA Labs UAE, designed to detect mutations in the PEX1 gene, which are linked to Peroxisome Biogenesis Disorder Type 1B (PBD-ZSD). This condition is part of a spectrum of disorders that affect the normal function and formation of peroxisomes, cellular structures essential for various metabolic processes, including the breakdown of fatty acids and the detoxification of hydrogen peroxide.
Mutations in the PEX1 gene disrupt these critical functions, leading to a wide range of symptoms such as developmental delays, vision and hearing impairments, liver dysfunction, and abnormalities in bone formation. Early and accurate diagnosis through this genetic test can be crucial for managing symptoms, planning treatment strategies, and providing genetic counseling for affected families.
The test is conducted through a blood sample or cheek swab, utilizing advanced genetic sequencing techniques to identify mutations in the PEX1 gene. The cost of the test is 4400 AED, reflecting the comprehensive analysis and the specialized expertise required to interpret the results accurately. By opting for this test at DNA Labs UAE, patients and their families gain access to crucial information that can guide medical and lifestyle decisions, enhancing the quality of life for those affected by Peroxisome Biogenesis Disorder Type 1B.
The PEX5 Gene Peroxisome Biogenesis Disorder Type 2A Genetic Test is a specialized diagnostic tool designed to identify mutations in the PEX5 gene, which are responsible for a rare genetic condition known as Peroxisome Biogenesis Disorder Type 2A (PBD Type 2A), also known as Zellweger syndrome spectrum (ZSS). This condition is characterized by a spectrum of clinical features that can include abnormalities in the brain, liver, and kidneys, as well as developmental delays and distinctive facial features.
The PEX5 gene plays a crucial role in the normal functioning and formation of peroxisomes, cellular structures that are essential for the breakdown of very long-chain fatty acids and the synthesis of certain lipids necessary for brain development and function. Mutations in the PEX5 gene disrupt these processes, leading to the accumulation of harmful substances in the body and the varied symptoms observed in affected individuals.
The test is available at DNA Labs UAE, a leading facility in genetic diagnostics and research. The cost of the PEX5 Gene Peroxisome Biogenesis Disorder Type 2A Genetic Test is set at 4400 AED. The procedure involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory for the presence of mutations in the PEX5 gene. Results from this test can provide crucial information for the diagnosis, management, and genetic counseling of affected families.
The "PEX5 Gene Peroxisome Biogenesis Disorder Type 2B Genetic Test" is a specialized diagnostic examination offered by DNA Labs UAE, aimed at identifying mutations in the PEX5 gene. These mutations are responsible for Peroxisome Biogenesis Disorder Type 2B (PBD-ZSD), a rare genetic condition that affects multiple systems of the body, leading to severe developmental and metabolic issues. The test, priced at 4400 AED, involves analyzing the patient's DNA to detect any abnormalities in the PEX5 gene, which plays a crucial role in the formation and functioning of peroxisomes. Peroxisomes are essential for cell metabolism, including the breakdown of fatty acids and the detoxification of hydrogen peroxide. An accurate diagnosis through this genetic test can lead to better management and treatment strategies for affected individuals, aiming to improve their quality of life and reduce the impact of symptoms.
The HSD17B4 gene plays a critical role in the development and function of the body, and mutations in this gene can lead to Perrault Syndrome, a rare genetic disorder characterized by sensorineural hearing loss in males and females and premature ovarian failure in females. To diagnose this condition, a specific genetic test targeting the HSD17B4 gene is available, providing crucial information for affected individuals and their families.
At DNA Labs UAE, this specialized test is conducted to identify mutations in the HSD17B4 gene, which is essential for confirming a diagnosis of Perrault Syndrome. The process involves collecting a DNA sample, typically through a blood draw or cheek swab, and analyzing the genetic material for any abnormalities in the HSD17B4 gene.
The cost of the HSD17B4 gene Perrault Syndrome genetic test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to detect mutations in the gene, offering a pathway towards a definitive diagnosis. With this information, affected individuals can explore appropriate treatment options and management strategies for the symptoms of Perrault Syndrome, as well as receive genetic counseling to understand the implications for family planning and the risk of passing the condition on to future generations.
The GNE Gene Nonaka Myopathy Genetic Test is a specialized diagnostic examination available at DNA Labs UAE, aimed at identifying mutations in the GNE gene, which are associated with Nonaka Myopathy, also known as GNE Myopathy or Distal Myopathy with Rimmed Vacuoles (DMRV). Nonaka Myopathy is a rare genetic disorder characterized by progressive muscle weakness and wasting, primarily affecting the lower limbs before spreading to other parts of the body. Early and accurate detection through this genetic test can be crucial for the management and treatment of the condition.
The test is priced at 4400 AED and involves collecting a DNA sample, usually through a blood draw or a cheek swab, which is then analyzed in the state-of-the-art facilities at DNA Labs UAE. The laboratory employs advanced genetic sequencing techniques to scrutinize the GNE gene for any mutations that might indicate the presence of Nonaka Myopathy. This test is essential for individuals with a family history of the disease or those exhibiting symptoms, as it can provide a definitive diagnosis, facilitating timely interventions and genetic counseling.
DNA Labs UAE is renowned for its commitment to accuracy, confidentiality, and support throughout the testing process, making it a trusted choice for genetic testing services in the region.
The NDP Gene Norrie Disease Genetic Test is a specialized diagnostic tool available at DNA Labs UAE, designed to identify mutations in the NDP gene, which are responsible for Norrie disease. This rare genetic disorder primarily affects the eyes, leading to severe visual impairment or blindness from birth or early infancy. It may also cause progressive hearing loss and, in some cases, developmental delays or mental health issues. By analyzing the specific genetic markers associated with Norrie disease, this test can provide essential information for accurate diagnosis, enabling timely intervention and management strategies. The cost of the NDP Gene Norrie Disease Genetic Test at DNA Labs UAE is 4400 AED, reflecting the comprehensive analysis and the sophisticated technology employed to ensure precise results.