Blogs

Brody Myopathy is a rare genetic disorder that affects skeletal muscle function. It is characterized by muscle stiffness and difficulty relaxing muscles after contracting them, especially after exercise. This condition is caused by mutations in the ATP2A1 gene, which plays a crucial role in muscle relaxation by controlling calcium levels within muscle cells. Understanding the […]

Borjeson-Forssman-Lehmann Syndrome (BFLS) is a rare and complex genetic condition that affects many parts of the body. It is characterized by intellectual disability, obesity, seizures, gynecomastia (enlarged breast tissue in males), hypogonadism (a condition in which the sex glands produce little or no hormones), and distinctive facial features. The syndrome is caused by mutations in […]

— Bethlem Myopathy Type 2 is a rare genetic condition that affects muscle development and function. This condition is caused by mutations in the COL12A1 gene, which plays a critical role in the strength and integrity of muscle and connective tissue. Recognizing the symptoms of Bethlem Myopathy Type 2 is crucial for early diagnosis and […]

Bethlem Myopathy Type 1 is a genetic condition that affects the connective tissue, primarily causing muscle weakness and joint stiffness. It is associated with mutations in the COL6A3 gene, which plays a crucial role in maintaining the structural integrity of muscle and skin tissues. As a leading genetic laboratory, DNA Labs UAE offers comprehensive testing […]

Bethlem myopathy, a rare genetic disorder, falls under the umbrella of collagen VI-related myopathies. This condition is primarily characterized by muscle weakness and joint stiffness (contractures), typically manifesting from early childhood, although symptoms can appear at any age. The COL6A2 gene plays a critical role in the development and functioning of muscles and connective tissues […]

Symptoms of COL6A1 Gene Bethlem Myopathy Genetic Test Bethlem myopathy, a disorder affecting the connective tissue, primarily muscles, is linked to mutations in the COL6A1 gene. Recognizing the symptoms early can significantly impact management and quality of life. DNA Labs UAE offers a genetic test for the COL6A1 gene mutation, pivotal in diagnosing Bethlem myopathy. […]

Understanding the complex nature of genetic disorders is a challenging yet crucial aspect of modern medicine. Among these, the ATP10A gene’s role in autism, mental retardation, and susceptibility to Angelman Syndrome has garnered significant attention. DNA Labs UAE, a pioneering genetic testing facility, offers a comprehensive test designed to identify mutations in the ATP10A gene. […]

In the quest to understand the complex world of autism spectrum disorder (ASD), scientists and researchers have been diligently exploring the genetic underpinnings that might contribute to its development. One such genetic marker that has come under scrutiny is the ZNF778 gene. DNA Labs UAE, a leading genetic laboratory, offers a comprehensive ZNF778 Related Genetic […]

In the realm of genetic testing and diagnostics, the identification of specific genes related to autism spectrum disorder (ASD) represents a significant advancement. One such gene, UNC13B, has been associated with an increased risk of developing ASD. At DNA Labs UAE, we are at the forefront of providing comprehensive genetic testing services, including the UNC13B […]

Autism Spectrum Disorder (ASD) is a complex developmental condition that involves persistent challenges in social interaction, speech, and nonverbal communication, along with restricted/repetitive behaviors. The symptoms are usually seen in the early developmental period. However, the intensity and manifestation of these symptoms can vary widely among individuals. Recent advancements in genetic research have led to […]