Osteopetrosis is a rare bone disorder characterized by the abnormal hardening of bones, leading to various health complications. Among the genetic causes of osteopetrosis, mutations in the SNX10 gene are associated with a severe form of the disease known as “Osteopetrosis of Infancy Malignant.” This condition not only affects bone density but also has implications […]
Palmoplantar Keratoderma (PPK) represents a diverse group of disorders characterized by thickening of the skin on the palms of the hands and soles of the feet. Among the genetic forms of PPK, the nonepidermolytic focal type associated with mutations in the KRT16 gene is of significant interest due to its distinct clinical features and inheritance […]
Osteopetrosis is a rare bone disorder characterized by the abnormal hardening and densification of bones, a condition that significantly impacts the overall quality of life of affected individuals. Among the various forms of osteopetrosis, the Autosomal Dominant Type 1, linked to mutations in the CLCN7 gene, presents a unique set of challenges and symptoms for […]
Papillon-Lefevre Syndrome (PLS) is a rare genetic disorder that primarily affects the skin and teeth. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, to be affected. The CTSC gene, responsible for encoding the cathepsin C enzyme, plays a pivotal […]
Osteopetrosis is a group of rare genetic disorders characterized by the abnormal densification of bone, leading to various health complications. Among its types, Autosomal Recessive Osteopetrosis Type 1 (ARO), caused by mutations in the TCIRG1 gene, is one of the most severe forms. DNA Labs UAE offers a comprehensive genetic testing service for families concerned […]
Peeling Skin Syndrome Type 1, a rare genetic condition, is characterized by spontaneous, continual peeling of the skin. This condition, caused by mutations in the CDSN gene, often presents itself from birth or early childhood. Understanding the symptoms and undergoing genetic testing can provide crucial information for managing the condition effectively. DNA Labs UAE offers […]
Osteopetrosis, also known as marble bone disease, is a rare genetic disorder that affects the development and function of osteoclasts, the cells responsible for bone resorption. This leads to the abnormal hardening and densification of bones. Among the various types of osteopetrosis, Autosomal Recessive Type 2 (ARO2), caused by mutations in the TNFSF11 gene, is […]
Osteopetrosis is a group of rare genetic bone disorders characterized by increased bone density and abnormal bone growth. Among its various types, the Autosomal Recessive Type 3 (ARO3), linked to mutations in the CA2 gene, stands out due to its unique clinical manifestations and inheritance patterns. DNA Labs UAE offers a comprehensive genetic test for […]
Osteopetrosis, also known as marble bone disease, is a rare genetic disorder characterized by the increased density of bones, making them abnormally hard yet fragile. Among the various types of osteopetrosis, Autosomal Recessive Type 4, caused by mutations in the CLCN7 gene, is significant due to its specific genetic origins and implications. DNA Labs UAE […]
Osteopetrosis, also known as “marble bone disease,” is a rare genetic disorder characterized by increased bone density and abnormal bone growth. This condition can lead to a variety of health problems, including fractures, anemia, and impaired vision. One specific form of this disease, Osteopetrosis Autosomal Recessive Type 5, is caused by mutations in the OSTM1 […]
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.
