Ehlers-Danlos Syndrome (EDS) is a group of genetic disorders that affect the connective tissues in the body, which provide strength and elasticity to the skin, joints, and blood vessels. Among the various types of EDS, one rare form is associated with mutations in the FKBP14 gene. This specific subtype is characterized by progressive kyphoscoliosis, myopathy, […]
Epidermolysis bullosa simplex (EBS) is a group of genetic skin disorders that cause the skin to become very fragile and to blister easily. Among its subtypes, the Ogna type, caused by mutations in the PLEC gene, is a particularly rare form. Understanding the symptoms and undergoing genetic testing can be crucial for individuals who suspect […]
— Ehlers-Danlos Syndrome (EDS) is a group of disorders that affect the connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Among its various types, the Musculocontractural Type 1, caused by mutations in the CHST14 gene, stands out due to its distinctive clinical manifestations. Understanding the symptoms associated with this […]
Epidermolysis Bullosa Simplex (EBS) is a group of genetic conditions that cause the skin to be very fragile and to blister easily. The Weber-Cockayne type, which is one of the milder forms of EBS, primarily affects the hands and feet and usually becomes apparent with mild blistering during infancy or early childhood. This condition is […]
Ectodermal Dysplasia Hypohidrotic (ED) is a rare genetic condition that affects the development of the ectodermal structures, including the skin, hair, teeth, and sweat glands. The EDARADD gene plays a crucial role in the development of these ectodermal structures. Mutations in the EDARADD gene can lead to Hypohidrotic Ectodermal Dysplasia (HED), a form of the […]
Understanding the complexities of genetic conditions is crucial for early diagnosis and management. One such rare genetic disorder is the IKBKG gene ectodermal dysplasia hypohidrotic with immune deficiency. This condition, as daunting as it sounds, can have a significant impact on the quality of life of those affected. In this article, we will delve into […]
Ectodermal Dysplasia Hypohidrotic (EDH) is a rare genetic condition primarily affecting the development of the skin, hair, teeth, and sweat glands. The condition is often inherited in an X-linked pattern, meaning the gene causing the condition, known as the EDA gene, is located on the X chromosome. Given its genetic basis, testing for this condition […]
DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive array of services to identify various genetic conditions, including the PKP1 Gene Ectodermal Dysplasia/Skin Fragility Syndrome. This condition, caused by mutations in the PKP1 gene, presents a unique set of challenges and symptoms for those affected. Understanding these symptoms and […]
Symptoms of COL5A1 Gene Ehlers-Danlos Syndrome Type 12 Genetic Test Ehlers-Danlos Syndrome (EDS) is a group of inherited disorders that affect connective tissues, primarily skin, joints, and blood vessel walls. Type 12 EDS, also known as vascular-like EDS, is linked to mutations in the COL5A1 gene. This particular form of EDS is characterized by a […]
Ehlers-Danlos Syndrome (EDS) represents a group of hereditary connective tissue disorders characterized by a wide range of symptoms due to the abnormality in collagen production or structure. Among its subtypes, the COL5A2 gene Ehlers-Danlos Syndrome, also known as Type 12, is less common but significant due to its unique genetic background and clinical manifestations. Understanding […]
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.
