Cerebellar ataxia is a condition that affects the cerebellum, the part of the brain that controls muscle coordination. Among the various genetic mutations that can lead to cerebellar ataxia, mutations in the SNX14 gene are a notable cause. Recognizing the symptoms associated with SNX14 gene cerebellar ataxia and understanding the genetic testing options available are […]

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. […]

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. […]

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 […]

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 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 […]

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 […]

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 […]

The discovery of the MAOA gene and its link to Brunner syndrome has been a significant milestone in the field of genetics. This rare condition, also known as MAOA deficiency syndrome, has been the subject of extensive research. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the MAOA Gene […]

In the realm of medical genetics, the detection and understanding of specific gene mutations play a crucial role in diagnosing and managing various conditions. One such condition, Budd-Chiari Syndrome, has garnered attention due to its severe impact on liver function and overall health. This condition is often associated with mutations in the F5 gene, which […]