Arthrogryposis Distal Type 2A, a rare genetic disorder, has been a subject of extensive research and discussion within the medical community. This condition, primarily affecting the development and flexibility of the joints, has been closely associated with mutations in the MYH3 gene. Understanding the symptoms and genetic underpinnings of this disorder is crucial for early […]
Osteology Diseases
Symptoms and Testing information for MYH3 Gene Arthrogryposis Distal Type 2B Genetic Test
Arthrogryposis Distal Type 2B, also known as Freeman-Sheldon syndrome, is a rare genetic disorder that primarily affects muscle and bone development. It is characterized by joint deformities, primarily in the hands and feet, which are present from birth. The MYH3 gene has been closely linked to this condition, and understanding its symptoms is crucial for […]
Symptoms and Testing information for TNNI2 Gene Arthrogryposis Distal Type 2B Genetic Test
Arthrogryposis Distal Type 2B (ADT2B), a rare genetic condition, is characterized by multiple joint contractures found throughout the body at birth. The condition primarily affects the hands and feet, leading to severe mobility and functionality issues. A pivotal role in diagnosing this condition is played by genetic testing, specifically targeting mutations in the TNNI2 gene. […]
Symptoms and Testing information for TNNT3 Gene Arthrogryposis Distal Type 2B Genetic Test
Arthrogryposis Distal Type 2B, also known as Sheldon-Hall syndrome, is a rare genetic disorder characterized by multiple joint contractures found throughout the body at birth. These contractures are primarily located in the hands and feet, leading to limited movement and flexibility. The condition is caused by mutations in the TNNT3 gene, which plays a critical […]
Symptoms and Testing information for PIEZO2 Gene Arthrogryposis Distal Type 3 Genetic Test
Understanding the genetic underpinnings of various conditions is critical for accurate diagnosis and effective treatment. One such condition that has garnered attention in the medical community is Arthrogryposis Distal Type 3, which is linked to mutations in the PIEZO2 gene. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the […]
Symptoms and Testing information for MMP20 Gene Amelogenesis Imperfecta Type 2A2 Genetic Test
Amelogenesis Imperfecta (AI) is a diverse collection of inherited dental conditions that primarily affect the enamel of the teeth, either in quantity or quality, or sometimes both. Type 2A2, linked to mutations in the MMP20 gene, is one of the subtypes of this condition. Understanding the symptoms of MMP20 gene Amelogenesis Imperfecta Type 2A2 is […]
Symptoms and Testing information for PIEZO2 Gene Arthrogryposis Distal Type 5 Genetic Test
Understanding the symptoms of PIEZO2 Gene Arthrogryposis Distal Type 5 and the importance of genetic testing is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for this condition, which is essential for individuals showing symptoms or with a family history of the disorder. Symptoms of PIEZO2 Gene Arthrogryposis Distal […]
Symptoms and Testing information for WDR72 Gene Amelogenesis Imperfecta Type 2A3 Genetic Test
Amelogenesis Imperfecta (AI) is a congenital disorder that affects the dental enamel, impairing its development and appearance. Type 2A3, linked to mutations in the WDR72 gene, is a rare form of this condition. DNA Labs UAE offers a comprehensive genetic test to diagnose this specific type, providing essential information for affected individuals and their families. […]
Symptoms and Testing information for ECEL1 Gene Arthrogryposis Distal Type 5D Genetic Test
In the realm of genetic testing and diagnostics, understanding the nuances of specific conditions is pivotal for both patients and healthcare providers. One such condition that has garnered attention due to its rarity and the complexity of its symptoms is Arthrogryposis Distal Type 5D, associated with mutations in the ECEL1 gene. At DNA Labs UAE, […]
Symptoms and Testing information for C4orf26 Gene Amelogenesis Imperfecta Type 2A4 Genetic Test
Amelogenesis Imperfecta (AI) is a heterogeneous group of genetic conditions affecting the dental enamel, predominantly characterized by its abnormal formation. Among the various types of AI, Type 2A4, associated with mutations in the C4orf26 gene, is a particular focus due to its unique genetic implications and clinical manifestations. DNA Labs UAE offers a comprehensive genetic […]