In the realm of genetic testing, understanding the nuances of specific gene deficiencies is pivotal for both medical professionals and patients. One such deficiency, related to the BCAT1 gene, has garnered attention for its potential health implications. The BCAT1 gene, short for Branched-Chain AminoTransferase 1, plays a critical role in the metabolism of branched-chain amino […]
Ceroid lipofuscinosis neuronal type 2 (CLN2), also known as tripeptidyl peptidase 1 (TPP1) deficiency, is a rare, genetic, and fatal disorder that affects the nervous system. Children with CLN2 disease experience progressive deterioration of motor skills, speech, vision, and cognitive abilities due to the accumulation of lipopigments in the body’s tissues. These lipopigments, primarily ceroid […]
The BCAT2 gene, encoding the Branched-Chain Amino Acid Transaminase 2 enzyme, plays a critical role in the metabolism of branched-chain amino acids (BCAAs), which are essential nutrients obtained from proteins found in food. Deficiencies in this enzyme can lead to a range of metabolic disorders, underscoring the importance of accurate diagnosis and timely intervention. In […]
Ceroid lipofuscinosis neuronal type 3, commonly known as CLN3 disease or Batten disease, is a rare, inherited, neurodegenerative disorder that primarily affects the nervous system. Early symptoms typically begin in childhood, and the condition progressively leads to a severe decline in motor functions, vision, and mental capabilities. Given the severe impact of CLN3 disease, early […]
Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a rare genetic disorder that impacts the body’s ability to properly process certain amino acids found in proteins. This condition can lead to a range of symptoms, varying in severity from mild to severe, and can affect individuals differently. Understanding the symptoms and the availability of genetic testing […]
DNA Labs UAE is at the forefront of genetic testing and diagnosis, offering a wide range of services designed to provide individuals with accurate and actionable health information. Among the many tests offered, the DNAJC5 Gene Ceroid Lipofuscinosis Neuronal Type 4 Genetic Test is a critical tool for diagnosing a rare but severe neurological disorder. […]
At DNA Labs UAE, we are committed to providing comprehensive genetic testing services to help diagnose and manage a variety of genetic conditions. One of the tests we offer focuses on the SCNN1A gene, which is associated with bronchiectasis with or without elevated sweat chloride, also known as type 2. This specific genetic condition can […]
Symptoms of BCHE Gene Butyrylcholinesterase Deficiency Genetic Test Butyrylcholinesterase (BChE) deficiency is a rare genetic condition that can significantly impact an individual’s health and response to certain medications. It is caused by mutations in the BCHE gene, which leads to a reduction or absence of the butyrylcholinesterase enzyme. This enzyme plays a crucial role in […]
Carbamoylphosphate synthetase I deficiency (CPS1 deficiency) is a rare genetic disorder that affects the urea cycle, a series of biochemical processes in the liver responsible for removing ammonia from the bloodstream. Ammonia, a byproduct of protein metabolism, is toxic if not properly eliminated from the body. The CPS1 gene encodes an enzyme that plays a […]
In the realm of genetic diagnostics, understanding the implications of specific gene deficiencies is paramount for early detection and management of potential health issues. One such genetic condition that has garnered attention is the deficiency of the ST6GAL2 gene, known for encoding the enzyme Beta-Galactosamide alpha-2,6-Sialyltransferase 2. This enzyme plays a crucial role in the […]
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.
