In the realm of genetic diagnostics and personalized medicine, understanding the intricacies of our genetic makeup has never been more accessible. Among the myriad of genetic conditions that can now be identified through advanced genetic testing, Hypochondroplasia, caused by mutations in the FGFR3 gene, stands out due to its impact on skeletal development. DNA Labs […]
Symptoms of PEX1 Gene Heimler Syndrome Type 1 Heimler Syndrome is a rare genetic disorder, classified under the broader category of peroxisomal biogenesis disorders. It is primarily associated with mutations in the PEX1 gene. Individuals affected by Heimler Syndrome type 1 exhibit a range of symptoms that can significantly impact their quality of life. Recognizing […]
Understanding the intricacies of genetic conditions is paramount in the realm of modern medicine, and the identification of specific gene mutations plays a crucial role in this process. Among these genetic conditions, Hypophosphatemic Rickets with Hypercalciuria (HHRH) is a rare disorder that results from mutations in the SLC34A3 gene. DNA Labs UAE is at the […]
Symptoms of CD59 Gene Hemolytic Anemia CD59-Mediated with or Without Immune-Mediated Polyneuropathy Hemolytic anemia caused by mutations in the CD59 gene, with or without associated immune-mediated polyneuropathy, is a rare but serious condition. This genetic disorder impacts the body’s ability to protect red blood cells from being destroyed by the immune system, leading to a […]
— Hypophosphatemic rickets is a rare genetic disorder that affects the bones, making them weak and soft. It is primarily caused by an abnormality in the FGF23 gene, leading to an autosomal dominant form of the disease. This condition disrupts the normal balance of phosphorus in the body, resulting in low levels of phosphate in […]
Hemophagocytic lymphohistiocytosis (HLH) is a rare but severe syndrome of excessive immune activation. Type 2 HLH, specifically, is caused by mutations in the PRF1 gene, leading to the disorder’s familial or primary form. This genetic anomaly disrupts the normal function of immune cells, causing them to aggressively attack the body’s own tissues and organs. Recognizing […]
DMP1 gene Hypophosphatemic rickets autosomal recessive type 1 is a rare genetic disorder that affects bone development and mineralization. This condition, caused by mutations in the DMP1 gene, leads to a range of symptoms that can significantly impact an individual’s quality of life. Recognizing these symptoms early on is crucial for managing the condition effectively. […]
Hemophagocytic lymphohistiocytosis (HLH) is a rare but severe syndrome of excessive immune activation. It can be inherited or acquired, with the genetic form often presenting in infancy or early childhood. Among the genetic causes, mutations in the UNC13D gene lead to a form of the disease known as familial hemophagocytic lymphohistiocytosis type 3 (FHL3). Understanding […]
Symptoms of STX11 Gene Hemophagocytic Lymphohistiocytosis Type 4 Hemophagocytic lymphohistiocytosis (HLH) is a rare but severe syndrome of excessive immune activation. Type 4, associated with mutations in the STX11 gene, presents unique challenges and symptoms. Understanding these can be crucial for early diagnosis and treatment. Hemophagocytic lymphohistiocytosis type 4, caused by mutations in the STX11 […]
Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially life-threatening condition that affects the immune system. Among the genetic forms of this disease, type 5 is caused by mutations in the STXBP2 gene. This particular form of HLH can lead to severe inflammation and damage to organs throughout the body, including the liver, spleen, and bone […]
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.
