The COMT (Catechol-O-Methyltransferase) gene plays a critical role in the metabolic process of catecholamines, such as dopamine, epinephrine, and norepinephrine. These neurotransmitters are essential for various bodily functions, including mood regulation, cognition, and response to stress. A deficiency in the COMT enzyme can lead to a variety of symptoms and conditions, making it crucial for […]
Symptoms of PPT1 Gene Ceroid Lipofuscinosis Neuronal Type 1 Genetic Test Ceroid lipofuscinosis neuronal type 1 (CLN1), also known as infantile Batten disease, is a rare and fatal autosomal recessive neurodegenerative disorder that primarily affects the nervous system. It is caused by mutations in the PPT1 gene, which leads to the accumulation of lipopigments in […]
Ceroid lipofuscinosis neuronal type 10 (CLN10) is a rare genetic disorder that is part of a group of diseases known as neuronal ceroid lipofuscinoses (NCLs). These disorders affect the nervous system and are characterized by the accumulation of a fatty substance called lipofuscin in the body’s tissues. The CTSD gene, which provides instructions for producing […]
Symptoms of BLM Gene Bloom Syndrome Genetic Test Bloom syndrome, a rare genetic disorder, is primarily characterized by short stature, a high-pitched voice, and an increased susceptibility to infections and cancer. The condition, caused by mutations in the BLM gene, affects the body’s ability to repair DNA. Recognizing the symptoms early can be crucial for […]
Understanding the symptoms of GRN Gene Ceroid Lipofuscinosis Neuronal Type 11 (CLN11) is crucial for early diagnosis and management of the condition. This genetic disorder, although rare, has significant impacts on those affected and their families. At DNA Labs UAE, we are committed to providing comprehensive genetic testing services, including the GRN Gene Ceroid Lipofuscinosis […]
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 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.
