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 […]
Osteology Diseases
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 CTSK Gene Pycnodysostosis Genetic Test
Pycnodysostosis is a rare genetic disorder that affects the development of bones, leading to abnormal bone density and fragility. This condition is caused by mutations in the CTSK gene, which plays a crucial role in bone resorption. Understanding the symptoms of this genetic condition is essential for early diagnosis and management. DNA Labs UAE offers […]
Symptoms and Testing information for ADA Gene Severe Combined Immunodeficiency Due to ADA Deficiency Genetic Test
Severe Combined Immunodeficiency (SCID) due to ADA deficiency is a rare genetic disorder that affects the immune system, making individuals highly susceptible to infectious diseases. This condition is caused by mutations in the ADA gene, which plays a crucial role in the development and function of the immune system. DNA Labs UAE offers a comprehensive […]
Symptoms and Testing information for MYD88 Gene Pyogenic Bacterial Infections Recurrent Due to MYD88 Deficiency Genetic Test
In the realm of genetic testing and personalized medicine, understanding the genetic underpinnings of various diseases is crucial for effective diagnosis and treatment. One such condition that has garnered attention is the recurrent pyogenic bacterial infections caused by MYD88 deficiency. The MYD88 gene plays a pivotal role in the immune system’s response to infection. Mutations […]
Symptoms and Testing information for IL2 Gene Severe Combined Immunodeficiency Due to IL2 Deficiency Genetic Test
Symptoms of IL2 Gene Severe Combined Immunodeficiency Due to IL2 Deficiency Genetic Test Severe Combined Immunodeficiency (SCID) due to IL2 deficiency is a rare but critical genetic disorder that affects the immune system, rendering it unable to function properly. This condition is caused by mutations in the IL2 gene, which plays a pivotal role in […]
Symptoms and Testing information for PSTPIP1 Gene Pyogenic Sterile Arthritis Pyoderma Gangrenosum and Acne Genetic Test
In the realm of genetic testing, understanding the underlying causes of certain complex conditions is paramount. Among these, the PSTPIP1 gene mutation stands out due to its association with a trio of severe disorders: Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne (PAPA syndrome). DNA Labs UAE is at the forefront of providing comprehensive genetic testing […]
Symptoms and Testing information for NHEJ1 Gene Severe Combined Immunodeficiency with Microcephaly Growth Retardation and Sensitivity to Ionizing Radiation Genetic Test
Severe Combined Immunodeficiency (SCID) is a devastating genetic disorder that affects the immune system, leaving individuals highly susceptible to infections. Among its various forms, one rare type is associated with mutations in the NHEJ1 gene. This particular variant not only compromises the immune system but also presents with microcephaly, growth retardation, and increased sensitivity to […]