Adenine Phosphoribosyltransferase (APRT) Deficiency is a rare genetic disorder that can lead to kidney disease and, in severe cases, kidney failure. It’s caused by mutations in the APRT gene, which plays a crucial role in the body’s processing of adenine, one of the four main nucleobases found in DNA. When this gene is defective, adenine […]
In the realm of genetic diagnostics, understanding the root causes of anemia has taken a significant leap forward with the identification of various genetic mutations responsible for this condition. One such discovery is the mutation in the SEC23B gene, which leads to a rare but impactful form of anemia known as Congenital Dyserythropoietic Anemia type […]
Adenylosuccinate lyase (ADSL) deficiency is a rare genetic disorder that affects the brain’s development and function. This condition is caused by mutations in the ADSL gene, which plays a crucial role in the purine nucleotide cycle. The purine nucleotide cycle is essential for the production of DNA and RNA, and any disruption in this cycle […]
Symptoms of SERPINA1 Gene Antitrypsin-alpha-1 Deficiency Genetic Test Alpha-1 Antitrypsin Deficiency (AATD) is a genetic condition that can lead to serious lung and liver disease. It is caused by mutations in the SERPINA1 gene, which instructs the body on how to create the protein alpha-1 antitrypsin (AAT). This protein protects the lungs from inflammation caused […]
Adrenal hyperplasia due to 21-hydroxylase deficiency is a condition that affects the adrenal glands, which are responsible for producing hormones that regulate various functions within the body. This condition is caused by mutations in the CYP21A2 gene, leading to a deficiency in the enzyme 21-hydroxylase. This enzyme plays a crucial role in the synthesis of […]
Cytochrome P450 oxidoreductase (POR) deficiency is a rare genetic condition that affects steroidogenesis. This condition is caused by mutations in the POR gene, which plays a crucial role in the biosynthesis of steroid hormones in the adrenal gland. The symptoms of POR deficiency can vary widely among affected individuals, ranging from mild to severe manifestations. […]
Adrenal Hyperplasia due to Steroid 11-Beta-Hydroxylase Deficiency is a rare genetic disorder affecting the adrenal glands. This condition is part of a group of disorders known as congenital adrenal hyperplasia (CAH), which interferes with the body’s ability to produce certain hormones. Specifically, this form of CAH is caused by mutations in the CYP11B1 gene, leading […]
Adrenal hypoplasia congenita (AHC) is a rare genetic condition that affects the development and functionality of the adrenal glands, which are crucial for producing hormones that regulate various bodily functions. The NR0B1 gene, also known as DAX1, plays a significant role in this condition. Mutations in the NR0B1 gene can lead to the congenital form […]
In the realm of genetic diagnostics and personalized medicine, DNA Labs UAE stands at the forefront, offering a comprehensive range of genetic testing services designed to enhance patient care and treatment outcomes. Among these, the ATIC Gene AICA-Ribosiduria Due to ATIC Deficiency Genetic Test is a pivotal diagnostic tool for individuals suspected of having ATIC […]
Understanding ACHE Gene Acetylcholinesterase Deficiency Acetylcholinesterase (AChE) deficiency is a rare genetic condition that affects the way the body breaks down acetylcholine, a neurotransmitter essential for muscle movement and various functions in the nervous system. The deficiency is caused by mutations in the ACHE gene, leading to an accumulation of acetylcholine, which can result in […]
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.
