Osteology Diseases

Epiphyseal dysplasia multiple type 3, associated with mutations in the COL9A3 gene, is a rare genetic disorder that affects the development of bones and joints, particularly in the knees, hands, and feet. This condition can lead to early-onset osteoarthritis, joint stiffness, and pain, significantly impacting an individual’s quality of life. Understanding the symptoms and undergoing […]

Symptoms of MATN3 Gene Epiphyseal Dysplasia Multiple Type 5 Epiphyseal dysplasia multiple type 5, associated with mutations in the MATN3 gene, is a rare genetic disorder that primarily affects the development of the bones. Individuals with this condition often experience symptoms related to skeletal abnormalities, which can vary in severity and manifestation among affected individuals. […]

Symptoms of DSG1 Gene Erythroderma Congenital with Palmoplantar Keratoderma, Hypotrichosis, and Hyper IgE The DSG1 gene plays a critical role in the proper functioning and structure of the skin. Mutations in this gene can lead to a rare and complex condition characterized by a constellation of symptoms, including erythroderma congenital, palmoplantar keratoderma, hypotrichosis, and elevated […]

Erythrokeratodermia Variabilis et Progressiva (EKVP) is a rare genetic skin disorder characterized by the appearance of well-demarcated, erythematous patches and hyperkeratosis. This condition is caused by mutations in the GJB3 gene, which encodes for connexin 31, a protein crucial for cell communication in the skin. Understanding the symptoms of this condition is essential for early […]

Erythrokeratodermia variabilis et progressive (EKVP) is a rare genetic skin disorder characterized by the presence of both fixed, persistent erythrokeratoderma and transient erythematous patches. This condition is caused by mutations in the GJB4 gene, which encodes a protein known as connexin 30.3, playing a crucial role in the communication between skin cells. Recognizing the symptoms […]

Understanding the COX4I2 Gene and Its Implications Genetic testing has become a cornerstone in the field of medical diagnostics, offering insights into inherited conditions and paving the way for tailored treatments. Among the various tests available, the COX4I2 Gene Exocrine Pancreatic Insufficiency Dyserythropoietic Anemia and Calvarial Hyperostosis Genetic Test stands out due to its focus […]

Symptoms of LAMC2 Gene Epidermolysis Bullosa Junctional Genetic Test Epidermolysis bullosa (EB) is a group of rare diseases that cause fragile, blistering skin. The skin blisters may appear in response to minor injury, even from heat, rubbing, or scratching. Among the various types of EB, Junctional Epidermolysis Bullosa (JEB) is a severe form that not […]

DNA Labs UAE is at the forefront of genetic testing and diagnostics, providing a wide range of services designed to offer insights into your genetic makeup and potential health risks. One such test that has garnered significant attention is the EXT1 Gene Exostoses Multiple Type 1 Genetic Test. This test is crucial for individuals who […]

Epidermolysis bullosa junctional Herlitz type (JEB-Herlitz) is a severe genetic condition that affects the skin and mucous membranes, leading to blister formation at the slightest friction. This condition is caused by mutations in several genes, including LAMA3. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a […]

Understanding EXT2 Gene Exostoses Multiple Type 2 EXT2 gene exostoses multiple type 2, also known as Hereditary Multiple Exostoses (HME) type 2, is a genetic disorder characterized by the growth of multiple noncancerous (benign) bone tumors, known as exostoses or osteochondromas. These growths typically appear in childhood and continue to develop until puberty. The EXT2 […]