Sandhoff disease is a rare, inherited disorder that falls under the category of lysosomal storage diseases. It is characterized by the progressive deterioration of nerve cells in the brain and spinal cord. The disease is caused by mutations in the HEXB gene, which leads to the deficiency of the enzymes beta-hexosaminidase A and beta-hexosaminidase B. […]
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 […]
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 […]
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 […]
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 […]
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 […]
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 […]
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 […]
In the realm of genetic disorders, Pyruvate Kinase Deficiency (PKD) stands out as a significant hereditary condition that affects the red blood cells’ ability to metabolize energy properly. This deficiency can lead to a wide range of symptoms, most notably hemolytic anemia, which is a condition characterized by the premature destruction of red blood cells. […]
Symptoms of PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency Pyruvate Dehydrogenase Phosphatase Deficiency (PDP1 deficiency) is a rare genetic disorder that affects the way the body converts certain substances into energy, particularly after meals. This condition falls under a broader category of mitochondrial disorders due to its impact on the mitochondria’s ability to produce energy. Identifying […]
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.
