Coffin-Lowry Syndrome (CLS) is a rare genetic disorder that affects multiple systems in the body. It is characterized by intellectual disability, abnormal facial features, skeletal malformations, and growth delays. The condition is caused by mutations in the RPS6KA3 gene, which plays a critical role in brain development and function. Recognizing the symptoms of Coffin-Lowry Syndrome […]
The COQ9 gene plays a critical role in the body, being fundamentally involved in the synthesis of Coenzyme Q10 (CoQ10), a substance essential for the proper functioning of mitochondria. Mitochondria, known as the powerhouses of the cell, are responsible for producing energy. A deficiency in CoQ10 can lead to a range of health issues, particularly […]
Understanding the symptoms of PDSS2 Gene Coenzyme Q10 Deficiency Type 3 and the significance of genetic testing is crucial for early detection and management of this condition. DNA Labs UAE offers comprehensive genetic testing for this specific deficiency, providing insights and guidance for affected individuals and their families. Introduction to PDSS2 Gene Coenzyme Q10 Deficiency […]
Symptoms of PDSS1 Gene Coenzyme Q10 Deficiency Type 2 Genetic Test Coenzyme Q10 (CoQ10) deficiency is a rare condition that can affect multiple systems of the body. This condition can present itself in various forms, one of which is associated with mutations in the PDSS1 gene. This specific type, known as Coenzyme Q10 Deficiency Type […]
Coenzyme Q10 (CoQ10) deficiency is a rare genetic condition that can affect multiple systems in the body, leading to a wide range of symptoms. The COQ2 gene plays a crucial role in the biosynthesis of CoQ10, a substance that is essential for the proper functioning of the mitochondria, the energy-producing units within cells. Mutations in […]
COACH Syndrome is a rare genetic disorder that affects multiple organs and systems within the body. It is characterized by a wide range of symptoms that can vary significantly from one individual to another. The condition is caused by mutations in the TMEM67 gene, which plays a crucial role in the development and function of […]
COACH Syndrome is a rare genetic disorder that affects multiple organ systems within the body. It is characterized by a range of symptoms that can vary significantly in their severity and presentation among affected individuals. The syndrome is an acronym that stands for Cerebellar vermis hypoplasia, Oligophrenia (intellectual disability), Ataxia (lack of muscle control), Coloboma […]
Symptoms of CC2D2A Gene COACH Syndrome Genetic Test COACH Syndrome is a rare genetic disorder that affects multiple organ systems, including the brain, liver, and kidneys. The syndrome is an acronym that stands for Cerebellar vermis hypoplasia, Oligophrenia (developmental delay), Ataxia, Coloboma, and Hepatic fibrosis. It is caused by mutations in the CC2D2A gene, which […]
— Understanding PRPS1 Gene CMTX5 Genetic Test Charcot-Marie-Tooth disease X-linked 5 (CMTX5), also known as Rosenberg-Chutorian syndrome, is a rare genetic condition that affects the peripheral nervous system. The condition is linked to mutations in the PRPS1 gene. Understanding the symptoms and undergoing early genetic testing can play a crucial role in managing and mitigating […]
In the realm of medical genetics, the discovery and study of specific genes have revolutionized our understanding and treatment of various inherited conditions. One such gene that has garnered attention in recent years is the AIFM1 gene, which is linked to a condition known as Charcot-Marie-Tooth disease X-linked 4 (CMTX4). This condition is a rare […]
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.
