Wrinkly Skin Syndrome, known scientifically as Cutis Laxa, is a rare genetic disorder that affects the connective tissue in the body. One of the genes associated with this condition is ATP6V0A2. Mutations in the ATP6V0A2 gene can lead to a variety of symptoms that significantly impact the individual’s quality of life. Recognizing these symptoms early […]
Xeroderma Pigmentosum (XP) is a rare genetic disorder that affects the skin, eyes, and, in some cases, the nervous system. Group A (XPA) is one of the most severe forms of this condition, caused by mutations in the XPA gene. This gene plays a crucial role in nucleotide excision repair (NER), a mechanism that repairs […]
Xeroderma Pigmentosum (XP) is a rare genetic disorder characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mainly affects the skin and eyes, and in some cases, the nervous system. Among the eight complementation groups of Xeroderma Pigmentosum (from A to G and a variant), Group C (XPC) is notable for […]
Xeroderma Pigmentosum (XP) is a rare genetic disorder that significantly increases the risk of skin cancer due to an inability to repair DNA damage caused by ultraviolet (UV) light. Among the eight known complementation groups of XP, Group D is particularly associated with mutations in the ERCC2 gene. At DNA Labs UAE, we offer a […]
Xeroderma Pigmentosum (XP) is a rare genetic disorder that affects the skin, eyes, and, in some cases, the nervous system. Among the various subtypes of this condition, the Xeroderma Pigmentosum Group E, also known as the DDB-Negative subtype, is particularly noteworthy. This subtype is caused by mutations in the DDB2 gene. Individuals with this condition […]
Understanding the Symptoms of ERCC4 Gene Xeroderma Pigmentosum Group F Xeroderma Pigmentosum (XP) is a rare genetic disorder characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition predominantly affects the skin, eyes, and, in some cases, the nervous system. Among the eight identified types of Xeroderma Pigmentosum, Group F, caused by […]
— Symptoms of SOST Gene Van Buchem Disease Genetic Test Van Buchem disease, a rare genetic disorder, is caused by mutations in the SOST gene. This condition is characterized by excessive bone growth, leading to a range of physical symptoms and complications. DNA Labs UAE offers a comprehensive genetic test for Van Buchem disease, aimed […]
Xeroderma Pigmentosum (XP) is a rare genetic disorder characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition primarily affects the skin and eyes, and in some cases, the nervous system. One of the genes associated with this condition is the ERCC5 gene, also known as Xeroderma Pigmentosum Group G. Individuals with […]
In the realm of genetic disorders, the discovery and understanding of specific genes and their mutations have paved the way for significant advancements in diagnosis and treatment. One such gene that has garnered attention in recent years is the TMEM173 gene, also known as the stimulator of interferon genes (STING). Mutations in the TMEM173 gene […]
Understanding POLH Gene Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum (XP) is a rare genetic disorder characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition predominantly affects the skin and eyes, leading to a higher risk of skin cancer and other complications. Among the different types of XP, the variant type caused […]
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.
