2846
Osteology Diseases
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 ACVRL1 Gene Telangiectasia Hereditary Hemorrhagic Type 2 Genetic Test
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a genetic disorder that affects blood vessels and can lead to abnormal bleeding. The condition is characterized by the development of abnormal blood vessels such as arteriovenous malformations (AVMs) and telangiectasias. One of the genes associated with HHT is the ACVRL1 gene, which, when mutated, […]
Symptoms and Testing information for FLNA Gene Terminal Osseous Dysplasis Genetic Test
DNA Labs UAE is at the forefront of genetic testing and research, offering a comprehensive range of tests designed to detect various genetic conditions. Among these, the FLNA Gene Terminal Osseous Dysplasia Genetic Test is critical for diagnosing a rare but significant genetic disorder. This article delves into the symptoms of FLNA gene terminal osseous […]
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 […]
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 DCLRE1C Gene Severe Combined Immunodeficiency Athabascan Type Genetic Test
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 […]
