Understanding ELP1 Gene HSAN3 Genetic Test Hereditary Sensory and Autonomic Neuropathy Type III (HSAN3), also known as Familial Dysautonomia, is a rare genetic disorder primarily affecting the development and function of the sensory and autonomic nervous systems. This condition, deeply impacting the lives of those diagnosed and their families, is traced back to mutations in […]
In the realm of medical genetics, the understanding and identification of genetic disorders have seen significant advancements. One such area of focus is the study of hereditary sensory and autonomic neuropathy type IV (HSAN IV), also known as congenital insensitivity to pain with anhidrosis (CIPA). This condition is primarily caused by mutations in the NTRK1 […]
Genetic testing has become a cornerstone in the diagnosis and understanding of various genetic disorders. Among these, the COG1 gene glycosylation disorder, also known as Type 2G, stands out due to its complex nature and the broad spectrum of symptoms it can cause. At DNA Labs UAE, we offer a comprehensive genetic test for this […]
Gerstmann-Straussler-Scheinker disease (GSS) is a rare, inherited neurodegenerative disorder that is caused by mutations in the PRNP gene. This condition is classified under a group of diseases known as prion diseases, which affect the normal folding of prion proteins in the brain, leading to brain damage. The symptoms of GSS can vary widely among affected […]
— Understanding the symptoms of COG8 Gene Glycosylation Disorder Type 2H is crucial for early diagnosis and management of the condition. This genetic disorder, also known as Congenital Disorders of Glycosylation (CDG), impacts the normal process of adding sugar chains to proteins, a critical function for various bodily processes. At DNA Labs UAE, we offer […]
Giant Axonal Neuropathy (GAN) Type 1 is a rare genetic disorder that affects the nervous system. The disorder is characterized by a progressive loss of nerve function, which typically begins in childhood. It is caused by mutations in the GAN gene, which plays a crucial role in maintaining the structure and function of nerve cells. […]
GM1-gangliosidosis is a rare, inherited lysosomal storage disorder caused by mutations in the GLB1 gene. This gene provides instructions for making an enzyme called beta-galactosidase, which plays a crucial role in the breakdown and recycling of certain molecules within cells. When mutations in the GLB1 gene occur, the activity of beta-galactosidase is reduced or absent, […]
Gillespie Syndrome, a rare genetic disorder, is characterized by aniridia (partial or complete absence of the iris), cerebellar ataxia (lack of muscle coordination affecting speech, eye movements, and the ability to swallow), and intellectual disability. Recent studies have pinpointed mutations in the ITPR1 gene as a primary cause of this condition. DNA Labs UAE offers […]
Symptoms of RNF216 Gene Gordon Holmes Syndrome Genetic Test Gordon Holmes syndrome is a rare genetic disorder characterized by a combination of neurological and endocrine abnormalities. This condition, which affects both the cerebellum and the hypothalamus, leads to a variety of symptoms that can significantly impact an individual’s quality of life. The RNF216 gene plays […]
GLUT1 Deficiency Syndrome Type 1 is a rare genetic disorder that affects the body’s ability to transport glucose into the brain, leading to a range of neurological symptoms. The condition is caused by mutations in the SLC2A1 gene, which encodes the glucose transporter protein GLUT1. Early diagnosis and management are crucial for improving the quality […]
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.
