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 […]
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 […]
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 […]
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 […]
Understanding the complexities of genetic disorders is crucial for early diagnosis and management. One such rare genetic condition is the DDR2 gene-related Spondylometaepiphyseal Dysplasia Short Limb-Hand Type. This condition, while rare, can significantly impact the quality of life of those affected. Recognizing the symptoms early on can lead to timely intervention and better management of […]
Severe Combined Immunodeficiency (SCID) represents a group of rare disorders caused by mutations in genes that are essential for the functioning of the immune system. One specific type, known as SCID Athabascan type, is caused by mutations in the DCLRE1C gene. This condition is particularly severe, as it affects both T and B lymphocytes, critical […]
Steatocystoma Multiplex is a rare skin disorder characterized by the development of multiple, non-cancerous cysts known as steatocysts. These cysts primarily affect the sebaceous glands, which are responsible for producing the skin’s oils. The condition is often inherited in an autosomal dominant pattern and has been linked to mutations in the KRT17 gene. Understanding the […]
In the realm of genetic diagnostics, the identification and understanding of specific gene mutations that lead to severe combined immunodeficiency (SCID) is crucial for early intervention and treatment. Among these genetic anomalies, mutations in the RAG1 gene stand out for their significant impact on the immune system, leading to a specific form of SCID characterized […]
Stiff Skin Syndrome (SSS) is a rare, genetic disorder characterized by hard, thick skin that covers large areas of the body. This condition, often present from birth or early childhood, restricts movement and leads to a range of health complications. The primary gene associated with Stiff Skin Syndrome is the FBN1 gene, which plays a […]
Severe Combined Immunodeficiency (SCID) is a rare but serious genetic disorder that affects the immune system, making individuals highly susceptible to infections. One specific form of this condition is characterized by the absence of T cells, but the presence of B cells and natural killer (NK) cells, linked to mutations in the PTPRC gene. This […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
