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 […]
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. […]
At DNA Labs UAE, we are committed to providing our clients with comprehensive genetic testing services, including the SARDH Gene Sarcosinemia Genetic Test. Sarcosinemia is a rare metabolic disorder that affects the body’s ability to process certain amino acids, leading to a variety of symptoms that can impact an individual’s health and quality of life. […]
In the realm of genetic testing, understanding and diagnosing rare genetic conditions has become increasingly accessible, thanks to advancements in science and technology. Among these conditions is Scheie Syndrome, a less severe form of mucopolysaccharidosis type I (MPS I), which is caused by mutations in the IDUA gene. DNA Labs UAE is at the forefront […]
Schindler disease, a rare genetic disorder, is caused by mutations in the NAGA gene. This condition affects the body’s ability to break down certain complex molecules, leading to an accumulation that can harm tissues and organs. The severity and symptoms can vary widely among individuals, but early detection and management are crucial for improving the […]
Understanding the implications of genetic mutations is crucial in diagnosing and managing various genetic disorders. One such mutation occurs in the SERHL2 gene, which can lead to Serine Hydrolase Deficiency. This condition, while rare, can have significant impacts on an individual’s health. DNA Labs UAE offers a comprehensive genetic test to identify mutations in the […]
Genetic testing has become a cornerstone in the diagnosis and understanding of numerous inherited disorders. Among these, the ALDH5A1 gene succinic semialdehyde dehydrogenase deficiency is a rare but significant condition that affects the body’s ability to break down the neurotransmitter gamma-aminobutyric acid (GABA). This deficiency can lead to a spectrum of neurological symptoms, making early […]
In the realm of genetic diagnostics and personalized medicine, understanding the intricate details of specific genetic conditions is paramount for early detection, management, and treatment. Among these, Pituitary Stalk Interruption Syndrome (PSIS) associated with mutations in the GPR161 gene represents a rare but significant condition that affects the development and function of the pituitary gland. […]
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.
