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 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 […]
Symptoms and Testing information for TYR Gene Albinism Oculocutaneous Type 1B Genetic Test
Albinism is a group of genetic conditions that result in little or no production of the pigment melanin, affecting the color of the skin, hair, and eyes. Among the various types, Oculocutaneous Albinism Type 1B (OCA1B) is specifically caused by mutations in the TYR gene. Understanding the symptoms and genetic basis of this condition is […]
Symptoms and Testing information for OCA2 Gene Albinism Oculocutaneous Type 2 Genetic Test
Albinism is a group of genetic conditions characterized by a reduced amount or complete absence of pigment in the skin, hair, and eyes. Among the various types of albinism, Oculocutaneous Albinism Type 2 (OCA2) is one of the most common, particularly affecting individuals of African, African-American, and Native American descent. This condition is caused by […]