Pontocerebellar hypoplasia (PCH) is a group of rare neurodegenerative disorders characterized by the underdevelopment of the cerebellum and often the brainstem, leading to significant neurological impairments. Among the various types, Pontocerebellar Hypoplasia Type 2E (PCH2E) is particularly noteworthy due to its genetic basis – a mutation in the VPS53 gene. Understanding the symptoms and genetic […]
Pontocerebellar Hypoplasia (PCH) is a group of rare genetic disorders that affect the development of the brain, particularly the cerebellum and the brainstem. Among the various types of PCH, Type 2D is specifically associated with mutations in the SEPSECS gene. This condition is characterized by significant neurodevelopmental delay, microcephaly (a condition where the head circumference […]
Pontocerebellar hypoplasia type 2C (PCH2C) is a rare genetic disorder that affects the development and function of the brain. This condition is characterized by the underdevelopment of the cerebellum and brainstem, leading to significant neurological deficits. The TSEN34 gene has been identified as one of the genetic contributors to this condition. Understanding the symptoms of […]
Pontocerebellar Hypoplasia Type 2B (PCH2B) is a rare genetic condition that affects the development of the brain, specifically the cerebellum and the brainstem, leading to significant neurological deficits. The TSEN2 gene has been closely associated with this condition, and mutations in this gene are believed to be a key factor in the development of PCH2B. […]
DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive range of services to help individuals understand their genetic makeup and its implications on their health. Among the various tests provided, the TSEN54 Gene Pontocerebellar Hypoplasia Type 2A Genetic Test is crucial for diagnosing a rare genetic disorder that affects […]
Pontocerebellar hypoplasia type 1B (PCH1B) is a rare genetic disorder that affects the development and function of the brain. This condition is characterized by a significant reduction in the size of the cerebellum and brainstem, which are critical for controlling motor functions, balance, and coordination. The EXOSC3 gene plays a pivotal role in the manifestation […]
Understanding genetic conditions is crucial for early diagnosis and treatment. One such rare but significant condition is Pontocerebellar Hypoplasia Type 1A, which is linked to mutations in the VRK1 gene. DNA Labs UAE is at the forefront of genetic testing and offers a comprehensive VRK1 Gene Pontocerebellar Hypoplasia Type 1A Genetic Test to aid in […]
Symptoms of GAA Gene Pompe Disease Genetic Test Pompe disease, also known as Glycogen Storage Disease Type II, is a rare, inherited lysosomal storage disorder that affects the heart, liver, muscles, and nervous system. It is caused by mutations in the GAA gene, which leads to the accumulation of glycogen in the lysosomes of cells. […]
Understanding the intricacies of our genetic makeup is crucial for diagnosing and managing various genetic conditions. One such condition, Polymicrogyria, affects the cerebral cortex of the brain, leading to a range of neurological symptoms. Specifically, mutations in the NR2E1 gene have been linked to the bilateral occipital form of this condition. DNA Labs UAE is […]
Understanding the intricacies of genetic conditions is pivotal in the realm of modern medicine. Among these, the RBCK1 gene-related Polyglucosan Body Myopathy Type 1, with or without immunodeficiency, stands out due to its rarity and the complexity of its symptoms. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including a […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
