Congenital muscular dystrophies (CMDs) are a group of genetic disorders characterized by muscle weakness and wasting that are present at birth or develop early in life. Among these, a subtype caused by mutations in the B3GALNT2 gene has gained attention due to its association with a specific form of muscular dystrophy and abnormalities in the […]
Understanding the genetic underpinnings of various diseases has become a cornerstone of modern medicine, allowing for more precise diagnoses, personalized treatments, and, in some cases, preventive measures to mitigate the impact of congenital conditions. One such condition that has gained attention in the medical community is Compton-North Congenital Myopathy, which is linked to mutations in […]
Cohen Syndrome is a rare genetic disorder that is characterized by developmental delay, intellectual disability, small head size (microcephaly), weak muscle tone (hypotonia), and abnormalities in the visual system. This condition is caused by mutations in the VPS13B gene, which plays a crucial role in the proper development and function of various systems in the […]
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 […]
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.
