Refsum Disease is a rare genetic disorder characterized by the accumulation of phytanic acid in the plasma and tissues of the body. This accumulation can lead to a variety of symptoms that can significantly impact an individual’s quality of life. The PEX7 gene plays a crucial role in the metabolism of phytanic acid, and mutations […]
Sulfite oxidase deficiency is a rare genetic disorder that affects the body’s ability to process sulfur-containing foods and beverages. This condition is caused by mutations in the SUOX gene, which plays a critical role in the enzyme sulfite oxidase’s function. Sulfite oxidase is essential for converting sulfites into safer sulfates, which the body can easily […]
Refsum Disease, also known as Heredopathia Atactica Polyneuritiformis, is a rare genetic disorder that affects the metabolism of phytanic acid, a type of fatty acid found in the diet. This condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to […]
Understanding the intricacies of genetic conditions is crucial in the realm of modern medicine. One such condition that has garnered attention is surfactant metabolism dysfunction, particularly related to mutations in the SFTPD gene. DNA Labs UAE stands at the forefront of diagnosing and understanding this condition through comprehensive genetic testing. This article delves into the […]
In the realm of genetic testing, the advancements have been significant, providing insights into various conditions that were once a mystery. One such condition that has garnered attention is the deficiency related to the SLC52A1 gene, which is crucial for the proper metabolism of riboflavin (Vitamin B2). DNA Labs UAE stands at the forefront of […]
DNA Labs UAE stands at the forefront of genetic testing, offering a wide range of services designed to provide individuals with crucial information about their genetic health. Among these services, the RPIA Gene Ribose 5-Phosphate Isomerase Deficiency Genetic Test is particularly noteworthy for its importance in diagnosing a rare but serious genetic disorder. This article […]
Rickets is a condition that affects bone development in children, leading to soft and weakened bones, which can cause bone deformities. While the most common cause of rickets is a deficiency in vitamin D, calcium, or phosphate, there are rare genetic forms of the disease. One such genetic form is related to mutations in the […]
Symptoms of CYP27B1 Gene Rickets Vitamin D Dependent Type 1 Genetic Test Rickets is a condition that leads to softening and weakening of bones in children due to prolonged vitamin D deficiency. Among its various forms, Vitamin D-dependent rickets type 1 (VDDR-I) is a rare genetic disorder caused by mutations in the CYP27B1 gene. This […]
Saccharopinuria, a rare metabolic disorder, is often underdiagnosed due to its complex nature and the subtlety of its symptoms. It is caused by mutations in the AASS gene, which plays a critical role in the lysine degradation pathway. Understanding the symptoms and genetic background of saccharopinuria is crucial for early diagnosis and treatment. DNA Labs […]
In the intricate world of genetics, understanding the nuances of specific genes and their impact on human health is paramount. One such gene, HSD17B3, plays a crucial role in the development of sexual characteristics in males. Mutations in this gene can lead to a condition known as HSD17B3 gene pseudohermaphroditism with gynecomastia, a complex interplay […]
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.
