Osteology Diseases

Understanding the complexities of genetic disorders is crucial for early diagnosis and management. One such condition involves a combination of symptoms attributed to mutations in the IARS2 gene. These symptoms include cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia. DNA Labs UAE offers a comprehensive genetic test for those who may […]

Chediak-Higashi Syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diatheses, neurological dysfunction, and immunodeficiency, leading to recurrent infections. This condition results from mutations in the LYST (lysosomal trafficking regulator) gene, which plays a crucial role in the regulation of lysosomal trafficking. Understanding the symptoms of Chediak-Higashi Syndrome is essential for […]

Choanal atresia and lymphedema are two conditions that can significantly impact an individual’s quality of life. These conditions can be challenging to diagnose, especially in their early stages. However, advancements in genetic testing have made it possible to identify specific genes associated with these conditions, providing hope and clarity for affected individuals and their families. […]

Chondrocalcinosis, also known as calcium pyrophosphate deposition (CPPD) disease, is a rheumatologic condition marked by the accumulation of calcium pyrophosphate dihydrate crystals in the joints and connective tissues. This condition can lead to episodes of painful arthritis, commonly affecting the knees, wrists, and other joints. One specific form of this condition, Chondrocalcinosis Type 2, is […]

Understanding the complexities of genetic conditions is crucial for early diagnosis and management. One such condition is Chondrodysplasia Punctata (CDP), specifically the X-Linked Dominant type associated with mutations in the EBP gene. This article delves into the symptoms of this condition, the importance of genetic testing, and details about the EBP Gene Chondrodysplasia Punctata X-Linked […]

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 […]

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 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 […]

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 […]

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. […]