Symptoms of PGK1 Gene Phosphoglycerate Kinase 1 Deficiency Genetic Test Phosphoglycerate kinase 1 (PGK1) deficiency is a rare genetic disorder that affects the way the body processes energy, particularly in red blood cells, muscles, and the brain. This condition falls under a group of diseases known as glycolytic enzymopathies. It is caused by mutations in […]
Pontocerebellar hypoplasia (PCH) represents a group of rare, genetic neurodegenerative disorders characterized by underdevelopment of the cerebellum and the pons, regions in the brain that play major roles in motor functions, balance, and cognitive processes. Type 6 Pontocerebellar Hypoplasia (PCH6), associated with mutations in the RARS2 gene, is a particularly severe form of the condition, […]
Paroxysmal Nonkinesigenic Dyskinesia (PNKD) is a rare neurological disorder characterized by sudden, involuntary movements or muscle contractions that can last from a few minutes to several hours. These episodes are not triggered by sudden movement but can be brought on by stress, caffeine, alcohol, or fatigue. Understanding the symptoms and genetic basis of PNKD is […]
— Partington syndrome is a neurological disorder that affects many aspects of development and behavior. It is caused by mutations in the ARX gene, which plays a crucial role in the development of the brain. This condition is characterized by a range of symptoms that can vary significantly in severity among affected individuals. Understanding these […]
— Pelizaeus-Merzbacher Disease (PMD) is a rare genetic disorder that affects the central nervous system. It is characterized by the disruption of the myelin sheath, the protective covering that surrounds nerve fibers in the brain. This condition is caused by mutations in the PLP1 gene, which plays a crucial role in the development and maintenance […]
Pelizaeus-Merzbacher Disease (PMD) is a rare genetic disorder that affects the central nervous system, impacting the ability of the brain and other parts of the nervous system to communicate effectively. It is caused by mutations in the PLP1 gene, but recent studies have indicated that mutations in the SLC16A2 gene can lead to a similar […]
Understanding the complexities of genetic conditions is crucial for early diagnosis and effective treatment. Among these, the SOX10 gene plays a pivotal role in the development of a group of conditions, namely Peripheral Demyelinating Neuropathy, Waardenburg Syndrome, and Hirschsprung Disease. These conditions, while distinct, share a common genetic underpinning that can lead to a wide […]
Periventricular heterotopia with microcephaly is a rare genetic disorder that affects brain development. It is caused by mutations in the ARFGEF2 gene. This condition is characterized by the presence of nodules of gray matter located in the wrong place in the brain, due to neurons not migrating properly during development. Additionally, individuals with this condition […]
In the realm of genetic testing and diagnosis, the PEX11B Gene Peroxisome Biogenesis Disorder 14B Genetic Test stands out as a critical tool for detecting a rare, inherited condition that affects the peroxisomes. Peroxisomes are essential cellular components that break down very long-chain fatty acids and synthesize plasmalogens, which are important for the normal function […]
Symptoms of PEX3 Gene Peroxisome Biogenesis Disorder Type 10A Peroxisome biogenesis disorders (PBDs) are a group of conditions that affect multiple parts of the body. Among these, the PEX3 gene peroxisome biogenesis disorder type 10A is a significant subtype, caused by mutations in the PEX3 gene. This disorder impacts the normal functioning of peroxisomes, essential […]
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.
