Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects various parts of the body. Among the genes associated with this syndrome, mutations in the SMC1A gene lead to a specific subtype known as Cornelia de Lange Syndrome Type 2. Recognizing the symptoms associated with this condition is crucial for early diagnosis and […]
Osteology Diseases
Symptoms and Testing information for SMC3 Gene Cornelia de Lange Syndrome Type 3 Genetic Test
Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that can affect multiple parts of the body. It is characterized by distinctive facial features, growth delays, intellectual disability, and limb defects. Among the genes associated with this condition, mutations in the SMC3 gene have been identified to cause a specific subtype of the syndrome, […]
Symptoms and Testing information for RAD21 Gene Cornelia de Lange Syndrome Type 4 Genetic Test
Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that can affect multiple parts of the body. This condition is known for its distinctive facial features, growth delays, intellectual disability, and limb defects. Among the genes associated with CdLS, the RAD21 gene plays a critical role. Mutations in the RAD21 gene can lead to […]
Symptoms and Testing information for HDAC8 Gene Cornelia de Lange Syndrome Type 5 Genetic Test
Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that can affect multiple parts of the body. It is characterized by distinctive facial features, growth delays, intellectual disability, and limb defects. Among the various genes associated with CdLS, mutations in the HDAC8 gene lead to a specific subtype known as Cornelia de Lange Syndrome […]
Symptoms and Testing information for RFXANK Gene Bare Lymphocyte Syndrome Type 2 Genetic Test
At DNA Labs UAE, we understand the critical importance of identifying genetic conditions early on to provide the best possible care and interventions for those affected. One such condition that requires attention is Bare Lymphocyte Syndrome Type 2 (BLS2), which is caused by mutations in the RFXANK gene. This article will delve into the symptoms […]
Symptoms and Testing information for ARSE Gene Chondrodysplasia Punctata X-Linked Recessive Genetic Test
Chondrodysplasia punctata (CDPX) is a rare genetic disorder that affects the development of bones and cartilage. Among its various forms, the X-linked recessive type, associated with mutations in the ARSE gene, presents unique challenges and symptoms. Understanding these can help individuals and families navigate the complexities of the condition. DNA Labs UAE offers a specialized […]
Symptoms and Testing information for CIITA Gene Bare Lymphocyte Syndrome Type 2 Complementation Group A Genetic Test
Symptoms of CIITA Gene Bare Lymphocyte Syndrome Type 2 Complementation Group A Genetic Test Bare Lymphocyte Syndrome Type 2 (BLS2), specifically the complementation group A, is a rare and severe genetic disorder that affects the immune system. This condition is characterized by a mutation in the CIITA gene, which plays a crucial role in the […]
Symptoms and Testing information for EXT1 Gene Chondrosarcoma Familial Genetic Test
Chondrosarcoma is a type of cancer that forms in the bones and joints, primarily affecting the cartilage cells. It is the second most common type of primary bone cancer. While most cases of chondrosarcoma occur sporadically, a small percentage are familial, indicating a genetic predisposition. One of the genes implicated in the familial form of […]
Symptoms and Testing information for FGFR2 Gene Beare-Stevenson Cutis Gyrata Syndrome Genetic Test
Beare-Stevenson Cutis Gyrata Syndrome is a rare genetic disorder that affects the development of various parts of the body. This condition is caused by mutations in the FGFR2 gene, which plays a crucial role in cell division, growth, and maintenance. Recognizing the symptoms early on can lead to timely diagnosis and management of the condition. […]
Symptoms and Testing information for RUNX2 Gene Cleidocranial Dysplasia Genetic Test
Cleidocranial dysplasia (CCD) is a rare genetic disorder that primarily affects the development of bones and teeth. The condition is characterized by abnormal bone growth and development, leading to distinctive physical traits and dental abnormalities. CCD is caused by mutations in the RUNX2 gene, which plays a critical role in the development and maintenance of […]