Ehlers-Danlos Syndrome (EDS) represents a group of hereditary connective tissue disorders, characterized by a wide range of symptoms and physical signs. Among its various types, the Musculocontractural Type 2 (MCEDS) is a rare form that is caused by mutations in the DSE gene. Understanding the symptoms of this condition is crucial for early diagnosis and […]
Epidermolysis Bullosa (EB) is a group of rare genetic conditions that result in easy blistering of the skin and mucous membranes. Among its various types, the Generalized Atrophic Benign Epidermolysis Bullosa (GABEB), which is associated with mutations in the LAMA3 gene, presents a set of distinct symptoms and challenges. DNA Labs UAE offers a comprehensive […]
Ehlers-Danlos Syndrome (EDS) represents a group of hereditary connective tissue disorders, characterized by a wide range of symptoms including hypermobile joints, skin that stretches further than normal, and a tendency to bruise easily. Among its various types, the Progeroid Type 1, associated with the B4GALT7 gene, stands out due to its unique clinical features. Understanding […]
Symptoms of COL17A1 Gene Epidermolysis Bullosa Junctional Genetic Test Epidermolysis bullosa (EB) is a group of rare diseases that cause fragile, blistering skin. The condition can vary from mild to severe, and it usually manifests at birth or in early childhood. Among the various types of EB, Junctional Epidermolysis Bullosa (JEB) is a result of […]
Ehlers-Danlos Syndrome (EDS) represents a group of genetic connective tissue disorders, characterized by a variety of symptoms ranging from hypermobile joints to more severe forms involving cardiovascular complications. Among its subtypes, the Progeroid Type 2, linked to mutations in the B3GALT6 gene, stands out due to its unique combination of symptoms and the profound impact […]
— GATA2 gene Emberger syndrome is a rare genetic disorder that has garnered attention in the medical community due to its complex nature and the variety of symptoms it presents. This condition is caused by mutations in the GATA2 gene, which plays a crucial role in the development and function of cells in the immune […]
Epidermolysis Bullosa Dystrophica (EBD) is a rare genetic disorder that affects the skin and sometimes the mucous membranes. The condition is characterized by the presence of fragile skin that blisters and tears from minor friction or trauma. This condition is primarily caused by mutations in the COL7A1 gene, which plays a crucial role in the […]
Epidermolysis bullosa dystrophica (EBD) is a rare genetic disorder that causes the skin to be very fragile and to blister easily. Among the genes associated with this condition, the MMP1 gene has been identified as a significant modifier, especially in its autosomal recessive form. Understanding the symptoms and the genetic aspects of this condition is […]
Epidermolysis bullosa (EB) is a group of rare diseases that cause fragile, blistering skin. The condition can vary from mild to severe, and it often manifests shortly after birth. One specific subtype of this condition, known as epidermolysis bullosa junctionalis with pyloric atresia (EB-JPA), is a rare but severe form that not only affects the […]
Epidermolysis Bullosa Junctionalis with Pyloric Atresia (EB-PA) is a rare genetic disorder that presents a considerable challenge to affected individuals and their families. This condition, resulting from mutations in the ITGB4 gene, manifests through a combination of skin blistering and gastrointestinal issues from birth. Understanding the symptoms and the availability of genetic testing can provide […]
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.
