Osteology Diseases

At DNA Labs UAE, we are dedicated to providing our clients with comprehensive genetic testing services to help diagnose and understand a variety of genetic disorders, including the rare and complex condition known as Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, associated with mutations in the SLC39A13 gene. This condition, while rare, can have significant impacts on the lives […]

Spondylocostal dysostosis is a rare genetic disorder characterized by abnormal development of the vertebrae and ribs, leading to a shortened trunk, scoliosis (curvature of the spine), and other skeletal abnormalities. Among the types of spondylocostal dysostosis, autosomal recessive type 1, caused by mutations in the DLL3 gene, is particularly significant. Understanding the symptoms and the […]

Spondylocostal dysostosis (SCD) is a group of rare congenital disorders characterized by abnormal development of the vertebrae and ribs. Among its various types, Autosomal Recessive Type 2, linked to mutations in the MESP2 gene, stands out for its genetic basis and implications. DNA Labs UAE offers a comprehensive genetic test for this condition, aiming to […]

Understanding LFNG Gene Spondylocostal Dysostosis Autosomal Recessive Type 3 Spondylocostal dysostosis (SCD) represents a group of rare congenital disorders characterized by abnormal development of the vertebrae and ribs, leading to a short trunk, short neck, and abnormal posture. Among the various types, Autosomal Recessive Type 3, caused by mutations in the LFNG gene, is a […]

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 […]

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 […]

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 […]