Osteology Diseases

Paget’s Disease of Bone, also known as Osteitis Deformans, is a chronic disorder that can result in enlarged and misshapen bones. Due to the disease’s complexity, it can lead to a range of symptoms, some of which may severely impact an individual’s quality of life. One of the key genetic markers linked to this condition […]

Osteopathia Striata with Cranial Sclerosis (OSCS) is a rare genetic disorder that affects the bones, leading to a combination of linear striations in the long bones and sclerosis of the skull. This condition is associated with mutations in the AMER1 gene, which plays a crucial role in bone development and growth. Understanding the symptoms of […]

In the realm of medical genetics, the identification and understanding of specific genes responsible for hereditary diseases have become paramount. One such condition that has garnered attention is the juvenile form of Paget’s disease, associated with mutations in the TNFRSF11B gene. At DNA Labs UAE, we offer a comprehensive genetic testing service to diagnose this […]

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 […]