Arthrogryposis Distal Type 1B, a rare genetic disorder, has been a focus of extensive research in the field of medical genetics. This condition, characterized by congenital joint contractures in two or more areas of the body, is caused by mutations in the MYBPC1 gene. Understanding the symptoms and undergoing timely genetic testing can be crucial […]
Osteology Diseases
Symptoms and Testing information for MYH3 Gene Arthrogryposis Distal Type 2A Genetic Test
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 […]
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 EOGT Gene Adams-Oliver Syndrome Type 4 Genetic Test
Symptoms of EOGT Gene Adams-Oliver Syndrome Type 4 Genetic Test Adams-Oliver Syndrome (AOS) is a rare genetic condition that can affect multiple parts of the body, including the skin, heart, and limbs. Among its various types, Type 4, caused by mutations in the EOGT gene, presents a unique set of challenges and symptoms for those […]
Symptoms and Testing information for ITGB6 Gene Amelogenesis Imperfecta Type 1H Genetic Test
Amelogenesis Imperfecta (AI) is a congenital disorder that affects the dental enamel, impairing its structure and appearance. Among the various types of AI, Type 1H, linked to mutations in the ITGB6 gene, presents unique challenges and symptoms for those affected. DNA Labs UAE offers a comprehensive genetic test for ITGB6 Gene Amelogenesis Imperfecta Type 1H, […]
Symptoms and Testing information for SMARCAD1 Gene Adermatoglyphia Genetic Test
Adermatoglyphia, often dubbed as the “immigration delay disease,” is a rare genetic disorder characterized by the absence of fingerprints. This condition not only presents unique challenges in personal identification but also raises intriguing questions about genetic inheritance and variability. At DNA Labs UAE, we offer a comprehensive genetic test for the SMARCAD1 gene, which is […]
Symptoms and Testing information for KLK4 Gene Amelogenesis Imperfecta Type 2A1 Genetic Test
Amelogenesis Imperfecta (AI) is a diverse collection of genetic conditions that affect the development of enamel, the hard, outer layer of teeth. Type 2A1, associated with mutations in the KLK4 gene, is one of the subtypes of this condition. DNA Labs UAE offers a comprehensive genetic test for those who may be affected by or […]
Symptoms and Testing information for SLC24A5 Gene Albinism Oculocutaneous Nonsyndromic Genetic Test
Albinism is a group of genetic disorders characterized by a lack or decrease in melanin production. The SLC24A5 gene plays a crucial role in the regulation of melanin synthesis, and mutations in this gene can lead to a specific form of albinism known as Oculocutaneous Albinism Type 4 (OCA4), which is a nonsyndromic type of […]
Symptoms and Testing information for TYR Gene Albinism Oculocutaneous Type 1A Genetic Test
Albinism is a group of genetic disorders characterized by a significant reduction in the amount or function of melanin, the pigment responsible for the color of the skin, hair, and eyes. One specific form, Oculocutaneous Albinism Type 1A (OCA1A), is caused by mutations in the TYR gene. This condition affects individuals from birth and presents […]