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. […]
Metabolic Disorders
Symptoms and Testing information for SUMF1 Gene Sulfatase deficiency Genetic Test
DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive range of services to help individuals understand their genetic makeup and its impact on their health. Among the various tests provided, the SUMF1 gene sulfatase deficiency genetic test is pivotal for diagnosing Multiple Sulfatase Deficiency (MSD), a rare genetic disorder […]
Symptoms and Testing information for PEX7 Gene Refsum Disease Genetic Test
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 […]
Symptoms and Testing information for SUOX Gene Sulfite oxidase deficiency Genetic Test
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 […]
Symptoms and Testing information for PHYH Gene Refsum Disease Genetic Test
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 […]
Symptoms and Testing information for SFTPD Gene Surfactant metabolism dysfunction Genetic Test
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 […]
Symptoms and Testing information for SLC52A1 Gene Riboflavin Deficiency Genetic Test
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 […]
Symptoms and Testing information for RPIA Gene Ribose 5-Phosphate Isomerase Deficiency Genetic Test
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 […]
Symptoms and Testing information for CYP2R1 Gene Rickets Vitamin D 25-Hydroxylation-Deficient Type 1B Genetic Test
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 and Testing information for PSAP Gene Prosaposin Deficiency Genetic Test
Symptoms of PSAP Gene Prosaposin Deficiency Genetic Test Understanding the complexities of genetic disorders is crucial in the realm of medical science, especially when it comes to conditions like PSAP gene prosaposin deficiency. This rare genetic disorder affects the body’s ability to produce prosaposin, a vital protein necessary for the normal functioning of lysosomal enzymes. […]