Tuberous Sclerosis Complex (TSC) is a genetic disorder that affects multiple systems of the body, leading to the growth of benign tumors in organs such as the brain, kidneys, heart, eyes, lungs, and skin. It is caused by mutations in either the TSC1 or TSC2 genes. The TSC2 gene, located on chromosome 16, plays a […]
Ullrich Congenital Muscular Dystrophy (UCMD) is a severe form of muscular dystrophy characterized by muscle weakness, joint stiffness, and developmental challenges. This condition is primarily caused by mutations in the COL6A1 gene, among others, which play a crucial role in maintaining the structural integrity of muscle and connective tissues. Understanding the symptoms and undergoing genetic […]
Spinocerebellar ataxia type 8, linked to mutations in the SYNE1 gene, represents a significant challenge within the realm of neurological disorders. This autosomal recessive condition, which impacts the nervous system, specifically affects the cerebellum – the part responsible for controlling balance and coordination. As the condition progresses, individuals may face increasing difficulties in movement and […]
Spinocerebellar ataxia type 9 (SCA9), linked to mutations in the COQ8A gene, is a rare, inherited neurodegenerative disorder that affects the cerebellum, the part of the brain that controls coordination and balance. This condition falls under the broader category of autosomal recessive genetic disorders, meaning that an individual must inherit two copies of the mutated […]
Spinocerebellar Ataxia with Axonal Neuropathy (SCAN1) is a rare genetic disorder that affects the nervous system, leading to a range of neurological symptoms. This condition is caused by mutations in the TDP1 gene and is inherited in an autosomal recessive manner. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA […]
Spinocerebellar ataxia is a term used to describe a group of hereditary ataxias that are characterized by degenerative changes in the part of the brain related to the control of movement, and sometimes in the spinal cord. Among these, a specific type known as infantile-onset spinocerebellar ataxia is particularly noteworthy due to its early onset […]
Understanding the genetic underpinnings of various conditions is crucial for accurate diagnosis and effective treatment. Among these conditions is the SHROOM4 gene Stocco dos Santos X-linked mental retardation syndrome. This rare genetic disorder has been the focus of extensive research, leading to the development of specialized genetic tests designed to diagnose this condition accurately. At […]
Spinocerebellar ataxia type 29 (SCA29) is a rare genetic disorder that is congenital and nonprogressive. It is characterized by early-onset cerebellar ataxia, which affects coordination and balance. This condition is caused by mutations in the ITPR1 gene, which plays a crucial role in the signaling pathways within cells, particularly in the cerebellum, which is the […]
In the realm of genetic testing, advancements are continuously being made to help identify and manage various genetic disorders. Among these, the PDE8B gene striatal degeneration genetic test stands out as a critical tool for diagnosing a rare but impactful condition. DNA Labs UAE is at the forefront of providing this essential service, offering a […]
Spinocerebellar Ataxia Type 3 (SCA3), also known as Machado-Joseph Disease, is a progressive neurodegenerative disorder that affects the cerebellum—the part of the brain that controls muscle movement. This condition is caused by a genetic mutation in the ATXN3 gene and is inherited in an autosomal dominant pattern. This means that only one copy of the […]
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.
