Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is a rare genetic disorder that affects the bones and the immune system. The condition is caused by mutations in the ACP5 gene, which plays a critical role in the development and function of both skeletal and immune systems. DNA Labs UAE offers a comprehensive genetic test for diagnosing this […]
Osteology Diseases
Symptoms and Testing information for B3GALT6 Gene Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 with or without Fractures Genetic Test
Understanding the complexities of genetic conditions is crucial in providing timely and accurate diagnoses for patients. Among these conditions, Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1, linked to mutations in the B3GALT6 gene, presents unique challenges and symptoms that necessitate precise genetic testing. DNA Labs UAE is at the forefront of this specialized field, offering […]
Symptoms and Testing information for MATN3 Gene Spondyloepimetaphyseal Dysplasia MATN3 Related Genetic Test
Spondyloepimetaphyseal dysplasia (SEMD) related to the MATN3 gene is a rare genetic disorder that affects the development of bones, particularly those in the spine (spondylo) and the ends (epiphyses) and shafts (metaphyses) of the long bones in the limbs. The MATN3 gene plays a crucial role in the development and maintenance of the extracellular matrix […]
Symptoms and Testing information for CHST3 Gene Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations Genetic Test
At DNA Labs UAE, we are dedicated to providing advanced genetic testing services to help diagnose a variety of genetic conditions. One such condition is Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations, caused by mutations in the CHST3 gene. Understanding the symptoms of this rare genetic disorder is crucial for early diagnosis and management. In this […]
Symptoms and Testing information for FGFRL1 Gene Radioulnar Synostosis FGFRL1 Related Genetic Test
Radioulnar synostosis is a rare genetic condition characterized by the fusion of the radius and ulna bones in the forearm, leading to limitations in forearm movement and a range of motion. This condition can significantly impact an individual’s quality of life, making early diagnosis and understanding of the genetic basis crucial for management and treatment […]
Symptoms and Testing information for FAM20C Gene Raine Syndrome Genetic Test
FAM20C gene mutations are the primary cause of Raine Syndrome, a rare genetic disorder. This condition, also known as Raine Syndrome, is characterized by a variety of symptoms that can affect individuals from birth. DNA Labs UAE offers a comprehensive genetic test to diagnose this condition, providing crucial information for affected families. The cost of […]
Symptoms and Testing information for LMNA Gene Restrictive Dermopathy Lethal Genetic Test
Symptoms of LMNA Gene Restrictive Dermopathy Lethal Genetic Test Restrictive Dermopathy (RD) is a rare and lethal genetic disorder, characterized by tight and rigid skin that leads to severe physical restrictions. At the heart of this condition is a mutation in the LMNA gene, a critical component in providing structural stability to the cell’s nucleus. […]
Symptoms and Testing information for ZMPSTE24 Gene Restrictive Dermopathy Lethal Genetic Test
Restrictive Dermopathy (RD) is a rare and lethal genetic disorder, presenting a significant challenge for both affected families and medical professionals. It is characterized by tight and rigid skin, which leads to a range of severe physical limitations and health complications. At the core of this condition is a mutation in the ZMPSTE24 gene, a […]
Symptoms and Testing information for AK2 Gene Reticular Dysgenesis Genetic Test
Reticular dysgenesis, a severe form of Severe Combined Immunodeficiency (SCID), is a rare genetic disorder that poses significant health risks right from birth. This disorder is attributed to mutations in the AK2 gene, which plays a crucial role in the development and functioning of the immune system. DNA Labs UAE offers a comprehensive genetic test […]
Symptoms and Testing information for ADAM10 Gene Reticulate Acropigmentation of Kitamura Genetic Test
The study and understanding of genetics have progressed significantly over the years, allowing us to delve deeper into the specifics of genetic conditions and their implications. One such condition that has garnered attention in the field of dermatology and genetics is the Reticulate Acropigmentation of Kitamura (RAPK), linked to mutations in the ADAM10 gene. DNA […]