Porphyria Cutanea Tarda (PCT) is the most common type of porphyria across the globe. This condition arises from a deficiency of the enzyme uroporphyrinogen decarboxylase (UROD), which is crucial in the heme production pathway. The lack of UROD activity leads to the accumulation of porphyrins in the skin, causing various symptoms upon exposure to sunlight. […]
Symptoms of FECH Gene Protoporphyria Erythropoietic Type 1 Erythropoietic protoporphyria (EPP) is a rare genetic condition that affects the body’s ability to produce heme, an essential component of hemoglobin. The condition is primarily caused by mutations in the FECH gene, leading to the accumulation of protoporphyrin in the blood, skin, and liver. Individuals with EPP […]
Pseudoachondroplasia is a genetic disorder that affects the development of bone and cartilage, leading to short stature and other skeletal abnormalities. It is caused by mutations in the COMP (Cartilage Oligomeric Matrix Protein) gene. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test […]
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder that affects the connective tissue in some parts of the body. This condition is primarily characterized by changes in the skin, eyes, and blood vessels, and it is caused by mutations in the ABCC6 gene. Understanding the symptoms of this genetic condition is crucial for early diagnosis […]
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 […]
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.
