Mucopolysaccharidosis Type 3D, also known as Sanfilippo Syndrome Type D, is a rare genetic disorder that affects the body’s ability to break down certain sugar molecules. This condition is part of a group of diseases known as lysosomal storage disorders. It is caused by mutations in the GNS gene, which leads to the accumulation of […]
Metabolic Disorders
Symptoms and Testing information for SLC25A3 Gene Mitochondrial Phosphate Carrier Deficiency Genetic Test
Symptoms of SLC25A3 Gene Mitochondrial Phosphate Carrier Deficiency Genetic Test The SLC25A3 gene plays a crucial role in the proper functioning of our cells, specifically within the mitochondria, which are often referred to as the powerhouses of the cell. A deficiency in the mitochondrial phosphate carrier, which is encoded by the SLC25A3 gene, can lead […]
Symptoms and Testing information for GALNS Gene Mucopolysaccharidosis Type 4A Genetic Test
Mucopolysaccharidosis Type IVA (MPS IVA), also known as Morquio Syndrome type A, is a rare genetic disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS). This enzyme is crucial for the breakdown and recycling of glycosaminoglycans (GAGs) in the body. Without it, GAGs accumulate in cells, blood, and connective tissues, leading to progressive systemic […]
Symptoms and Testing information for MPC1 Gene Mitochondrial Pyruvate Carrier Deficiency Genetic Test
Understanding the symptoms and early detection of Mitochondrial Pyruvate Carrier Deficiency (MPCD) is crucial for managing this rare genetic disorder effectively. At DNA Labs UAE, we specialize in providing comprehensive genetic testing services, including the MPC1 Gene Mitochondrial Pyruvate Carrier Deficiency Genetic Test. This test is designed to diagnose individuals suspected of having MPCD, a […]
Symptoms and Testing information for GLB1 Gene Mucopolysaccharidosis Type 4B Genetic Test
Mucopolysaccharidosis Type 4B (MPS 4B), also known as Morquio Syndrome type B, is a rare genetic disorder caused by mutations in the GLB1 gene. This condition is characterized by a deficiency in the beta-galactosidase enzyme, leading to the accumulation of glycosaminoglycans (GAGs) in various tissues and organs. The buildup of these substances can cause a […]
Symptoms and Testing information for MOCS1 Gene Molybdenum Cofactor Deficiency Type A Genetic Test
Molybdenum cofactor deficiency (MoCD) is a rare genetic disorder that disrupts the body’s ability to process certain chemicals, leading to a buildup of toxic substances and causing severe damage to the nervous system. Type A Molybdenum Cofactor Deficiency, caused by mutations in the MOCS1 gene, is the most common and severe form of this disorder. […]
Symptoms and Testing information for ARSB Gene Mucopolysaccharidosis Type 6 Genetic Test
Mucopolysaccharidosis type 6 (MPS VI), also known as Maroteaux-Lamy syndrome, is a rare genetic disorder caused by the deficiency of the enzyme arylsulfatase B (ARSB). This enzyme deficiency leads to the accumulation of dermatan sulfate in the body, affecting multiple organ systems and leading to a wide range of symptoms. Early diagnosis through genetic testing […]
Symptoms and Testing information for MOCS2 Gene Molybdenum Cofactor Deficiency Type B Genetic Test
Molybdenum cofactor deficiency (MoCD) is a rare genetic disorder that affects the body’s ability to process certain proteins and waste products. Type B of this condition, caused by mutations in the MOCS2 gene, can lead to severe neurological and developmental problems if not diagnosed and managed early. DNA Labs UAE offers a comprehensive genetic test […]
Symptoms and Testing information for GUSB Gene Mucopolysaccharidosis Type 7 Genetic Test
Mucopolysaccharidosis type VII, also known as Sly syndrome, is a rare genetic disorder caused by a deficiency in the enzyme beta-glucuronidase, which is coded by the GUSB gene. This enzyme deficiency leads to the accumulation of glycosaminoglycans (GAGs) in various body tissues, causing a wide range of symptoms. DNA Labs UAE offers a comprehensive genetic […]
Symptoms and Testing information for GPHN Gene Molybdenum Cofactor Deficiency Type C Genetic Test
Understanding the intricacies of genetic conditions is crucial in the realm of modern medicine, and one such rare but significant condition is Molybdenum Cofactor Deficiency (MoCD) Type C. This disorder, linked to mutations in the GPHN gene, has profound implications for those affected. At DNA Labs UAE, we are committed to providing comprehensive genetic testing […]