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 […]
In the intricate landscape of genetic disorders, Osteogenesis Imperfecta (OI) stands out due to its impact on bones and connective tissues. Among its various types, Type 13, linked to mutations in the BMP1 gene, is a subject of growing interest and concern within the medical community. DNA Labs UAE is at the forefront of diagnosing […]
Osteogenesis Imperfecta (OI) is a group of genetic disorders characterized by bones that break easily, often from little or no apparent cause. Among the various types of OI, Type 14, caused by mutations in the TMEM38B gene, is less common but significant due to its distinct clinical features and inheritance patterns. Understanding the symptoms and […]
Osteogenesis Imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that primarily affect the bones, leading to their increased fragility and susceptibility to fractures. Among the various types of OI, Type 15, caused by mutations in the WNT1 gene, is a form that has been identified relatively recently. This article […]
Osteogenesis Imperfecta (OI) is a group of genetic disorders that mainly affect the bones, making them fragile and more prone to fractures. Among the various types, Osteogenesis Imperfecta Type 5 (OI Type V) is a distinct form characterized by specific clinical features, which are caused by mutations in the IFITM5 gene. Recognizing the symptoms of […]
Symptoms of SERPINF1 Gene Osteogenesis Imperfecta Type 6 Osteogenesis Imperfecta (OI) Type 6, a rare form of the genetic disorder known for causing fragile bones that break easily, is attributed to mutations in the SERPINF1 gene. Unlike other forms of OI that are primarily caused by collagen production issues, Type 6 involves a deficiency in […]
Osteogenesis Imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that primarily affect the bones, leading to bones that break easily. Among the various types, Type 7, caused by mutations in the CRTAP gene, is one of the less common forms. Understanding the symptoms and genetic basis of Osteogenesis Imperfecta […]
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.
