Hyper-IgE Syndrome (HIES), also known as Job’s Syndrome, is a rare, primary immunodeficiency disorder characterized by high levels of serum IgE, eczema, and recurrent skin and lung infections. A significant cause of this syndrome is mutations in the STAT3 gene, leading to what is commonly referred to as STAT3-Hyper-IgE Recurrent Infection Syndrome. Recognizing the symptoms […]
DOCK8 Gene Hyper-IgE Recurrent Infection Syndrome, also known as Autosomal Recessive Hyper-IgE Syndrome (AR-HIES), is a rare genetic disorder that significantly impacts the immune system. This condition is characterized by high levels of immunoglobulin E (IgE), recurrent skin and lung infections, and a variety of other systemic symptoms. Understanding the symptoms of this syndrome is […]
Understanding HPGD Gene Hypertrophic Osteoarthropathy Type 1 Hypertrophic osteoarthropathy (HOA) is a medical condition characterized by the combination of clubbing (a deformity of the fingers and fingernails) and periostitis (swelling of the periosteal tissue around the bones) leading to joint pain and other symptoms. One genetic form of this condition, specifically Hypertrophic Osteoarthropathy Type 1, […]
Understanding the nuances of genetic disorders is crucial for early diagnosis and effective treatment. One such rare genetic condition is Hypertrophic Osteoarthropathy Type 2, primarily caused by mutations in the SLCO2A1 gene. This condition is characterized by a variety of symptoms that can significantly impact an individual’s quality of life. Recognizing these symptoms early on […]
Floating-Harbor syndrome is a rare genetic disorder characterized by a variety of symptoms and physical features. This condition, which affects individuals from birth, is often diagnosed through genetic testing, specifically targeting the SRCAP gene. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the SRCAP Gene Floating-Harbor Syndrome Genetic Test. […]
Focal Dermal Hypoplasia, also known as Goltz Syndrome, is a rare genetic disorder that affects multiple body systems. This condition is primarily characterized by abnormalities in the development of the skin, skeleton, eyes, and occasionally other areas. The PORCN gene plays a critical role in the development of these tissues, and mutations in this gene […]
Frank-ter Haar syndrome is a rare genetic disorder that presents a variety of symptoms and challenges for those affected by it. This syndrome is caused by mutations in the SH3PXD2B gene, which plays a crucial role in the development and maintenance of bone, heart, and eye tissues. Recognizing the symptoms early on can lead to […]
Geleophysic dysplasia type 1 is a rare genetic disorder that affects various parts of the body, including the skeleton, heart, and facial features. This condition is caused by mutations in the ADAMTSL2 gene, which plays a crucial role in the development and maintenance of connective tissue. Recognizing the symptoms early on can significantly impact the […]
Geroderma osteodysplasticum is a rare genetic disorder that is characterized by skin laxity and a prematurely aged appearance, as well as skeletal abnormalities. This condition is caused by mutations in the GORAB gene, which plays a crucial role in the development and maintenance of connective tissue. Understanding the symptoms associated with this disorder is essential […]
Ghosal Hematodiaphyseal Dysplasia (GHDD) is a rare genetic disorder that affects the development of bones and the production of blood cells. This condition is caused by mutations in the TBXAS1 gene, which plays a crucial role in bone development and the regulation of blood cell production. Recognizing the symptoms of this disorder is crucial for […]
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.
