Progressive External Ophthalmoplegia (PEO) with mitochondrial deletions is a rare genetic disorder that affects the muscles controlling eye and eyelid movement, leading to weakness and paralysis of these muscles. One specific type of this condition, known as Type 3 Autosomal Dominant Progressive External Ophthalmoplegia, is associated with mutations in the TWNK gene. Understanding the symptoms […]
Understanding POLG2 Gene Mutation and Its Implications Progressive External Ophthalmoplegia (PEO) is a disorder characterized by the gradual weakening of the muscles around the eyes, leading to difficulties in eye movement and, in some cases, affecting the muscles that control swallowing. One of the genetic causes behind this condition is a mutation in the POLG2 […]
Symptoms of TWNK Gene Perrault Syndrome Type 5 Genetic Test Perrault syndrome is a rare genetic disorder that affects both males and females, though the symptoms can be more severe and varied in females. It is characterized by sensorineural hearing loss in both genders and ovarian dysfunction in females. The syndrome has several types, with […]
— Symptoms of TSEN54 Gene Pontocerebellar Hypoplasia Type 5 Genetic Test Pontocerebellar Hypoplasia Type 5 (PCH5) is a severe neurological disorder that affects the development and function of the brain. It is caused by mutations in the TSEN54 gene, which plays a crucial role in brain development. Recognizing the symptoms of this condition early can […]
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, […]
Understanding the symptoms of diseases linked to genetic mutations is crucial for early diagnosis and management. One such condition that has garnered attention in the medical community is Pick Disease, particularly when associated with mutations in the PSEN1 gene. In the UAE, DNA Labs UAE stands at the forefront of genetic testing, offering a comprehensive […]
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy, more commonly known as Nasu-Hakola disease, is a rare genetic disorder that has significant impacts on both the skeletal system and the nervous system. This condition is primarily associated with mutations in the TREM2 gene. Understanding the symptoms and opting for early genetic testing can be crucial in managing […]
Understanding TYROBP Gene Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy, also known as Nasu-Hakola disease, is a rare genetic condition characterized by a combination of bone cysts and progressive neurological symptoms. This disorder results from mutations in the TYROBP gene, among others, which play a crucial role in the immune […]
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.
