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Osteology Diseases
Symptoms and Testing information for GDF2 Gene Telangiectasia Hereditary Hemorrhagic Type 5 Genetic Test
Hereditary Hemorrhagic Telangiectasia (HHT) Type 5, associated with mutations in the GDF2 gene, is a genetic disorder that affects blood vessels. This condition leads to the development of abnormal blood vessels that can cause bleeding and other complications. Recognizing the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers […]
Symptoms and Testing information for ENG Gene Telangiectasia Hereditary Hemorrhagic of Rendu Osler and Weber Type 1 Genetic Test
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu Syndrome, is a genetic disorder that affects blood vessels and can cause bleeding in various parts of the body. It’s a condition characterized by the development of abnormal blood vessels that can lead to serious health issues. The ENG gene is one of the genes associated with […]
Symptoms and Testing information for DLL3 Gene Spondylocostal Dysostosis Autosomal Recessive Type 1 Genetic Test
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 […]
Symptoms and Testing information for MESP2 Gene Spondylocostal Dysostosis Autosomal Recessive Type 2 Genetic Test
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 […]
Symptoms and Testing information for LFNG Gene Spondylocostal Dysostosis Autosomal Recessive Type 3 Genetic Test
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 […]
Symptoms and Testing information for ACP5 Gene Spondyloenchondrodysplasia with Immune Dysregulation Genetic Test
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 […]
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 […]
