— Understanding the Symptoms of F12 Gene Factor XII Deficiency and the Importance of Genetic Testing Factor XII deficiency, also known as Hageman factor deficiency, is a rare genetic disorder that affects the blood’s ability to clot. This condition is caused by mutations in the F12 gene, which plays a crucial role in the coagulation […]
— Cholestasis is a liver condition that impairs the flow of bile from the liver to the intestines, leading to its accumulation in the liver. This can cause severe liver damage if not diagnosed and treated early. One of the genetic causes of infantile cholestasis is mutations in the NR1H4 gene. Understanding the symptoms and […]
Crigler-Najjar syndrome type 1 is a rare genetic disorder that affects the metabolism of bilirubin, a yellow compound that is formed by the breakdown of red blood cells. This condition is caused by mutations in the UGT1A1 gene, which leads to a severe deficiency of the enzyme responsible for converting bilirubin into a form that […]
Understanding the UGT1A1 Gene and Crigler-Najjar Syndrome Type 2 The UGT1A1 gene plays a critical role in the body, primarily responsible for the process of glucuronidation, an essential phase of bilirubin detoxification. Bilirubin, a byproduct of red blood cell breakdown, requires proper processing to be eliminated from the body safely. Mutations in the UGT1A1 gene […]
Cryptorchidism is a condition that affects males, where one or both of the testes fail to descend into the scrotum. This condition can have several implications on health and fertility if left untreated. Understanding the genetic basis of cryptorchidism can help in early diagnosis and management. The RXFP2 gene has been identified as one of […]
Bardet-Biedl Syndrome (BBS) is a complex genetic disorder that affects multiple body systems. This condition, which presents a wide variety of symptoms, is caused by mutations in at least 14 different genes, one of which is the LZTFL1 gene. Understanding the symptoms and the genetic underpinnings of BBS is crucial for early diagnosis and management […]
Bardet-Biedl Syndrome (BBS) is a complex genetic disorder that affects multiple body systems. It is characterized by symptoms such as vision loss, obesity, kidney dysfunction, extra fingers or toes, and learning difficulties. However, the manifestation of these symptoms can vary significantly among individuals, partly due to modifiers like the CCDC28B gene. Recognizing the importance of […]
Symptoms of SLC12A2 Gene Bartter Syndrome Genetic Test Bartter syndrome is a group of rare inherited disorders that affect the kidneys. Among the various genes associated with this condition, mutations in the SLC12A2 gene have been identified as a cause of a specific subtype of Bartter syndrome. This genetic anomaly disrupts the normal function of […]
Bartter Syndrome is a group of rare inherited disorders that affect the kidneys. The SLC12A3 gene plays a significant role in this condition, and mutations in this gene can lead to what is commonly referred to as Gitelman syndrome, which is a variant of Bartter syndrome. Understanding the symptoms of this genetic condition is crucial […]
Bardet-Biedl Syndrome (BBS) is a complex genetic disorder that affects many parts of the body. Among the numerous genes associated with this condition, mutations in the BBS12 gene lead to Bardet-Biedl Syndrome Type 12. Individuals and families grappling with the symptoms of this condition or with a history of BBS can now turn to DNA […]
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.
