Osteology Diseases

Symptoms of MVK Gene Porokeratosis Type 3 Disseminated Superficial Actinic Genetic Test Porokeratosis is a group of rare skin disorders that manifest in various forms, one of which is the MVK Gene Porokeratosis Type 3 Disseminated Superficial Actinic (DSAP). This particular condition is notable for its genetic roots, linked to mutations in the MVK gene. […]

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 […]

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 […]