— Myoadenylate Deaminase Deficiency (MADD), also known as AMPD1 gene myopathy, is a genetic condition that affects muscle metabolism. This condition arises from mutations in the AMPD1 gene, leading to a deficiency in the enzyme myoadenylate deaminase. This enzyme plays a crucial role in energy production within muscle cells, particularly during periods of high demand […]
Understanding the complexities of genetic disorders is crucial in the realm of medical science. Among these, ITGA7 gene myopathy due to Integrin 7A deficiency stands out due to its rarity and the significant impact it can have on those affected. DNA Labs UAE, a leading genetic laboratory, offers comprehensive testing for this condition, aiming to […]
Myoglobinuria is a condition characterized by the presence of myoglobin in the urine, typically a sign of muscle damage. Acute recurrent myoglobinuria is a rare but serious condition that can cause significant muscle pain and weakness, along with dark, reddish-brown urine. One genetic cause of this condition is mutations in the LPIN1 gene. Understanding the […]
In the realm of genetic testing and diagnostics, understanding the intricate details of specific genes and their associated conditions is paramount. The NOL3 gene, in particular, has garnered attention for its link to familial cortical myoclonus, a rare neurological disorder characterized by quick, involuntary muscle jerks. At DNA Labs UAE, we offer a comprehensive genetic […]
Myoclonic Epilepsy of Lafora, a rare and severe form of epilepsy, is a genetic disorder that manifests in late childhood or early adolescence. This progressive disease is characterized by recurrent seizures and a decline in cognitive functions. The NHLRC1 gene has been identified as one of the culprits behind this condition. Understanding the symptoms and […]
Symptoms of EPM2A Gene Myoclonic Epilepsy of Lafora Myoclonic Epilepsy of Lafora, also known as Lafora Disease, is a rare and severe form of progressive myoclonus epilepsy. This genetic disorder is characterized by the presence of Lafora bodies, which are abnormal glycogen inclusions within cells. The disease typically manifests in late childhood or adolescence and […]
Myoclonic dystonia, a disorder characterized by rapid, involuntary muscle contractions (myoclonus) and sustained muscle contractions (dystonia) causing twisting and repetitive movements or abnormal postures, can significantly impact an individual’s quality of life. A genetic link, specifically related to the DRD2 gene, has been identified in some cases of this disorder. DNA Labs UAE offers a […]
The CHRND gene plays a crucial role in the normal functioning of the neuromuscular junction, which is the critical point of communication between nerve cells and muscles. Mutations in the CHRND gene can lead to a rare but serious condition known as Myasthenic Syndrome Congenital Type 3C (CMS Type 3C), primarily associated with Acetylcholine Receptor […]
Understanding CHRND Gene Myasthenic Syndrome Congenital Type 3B Fast-Channel Genetic Test CHRND gene myasthenic syndrome congenital type 3B, also known as the fast-channel congenital myasthenic syndrome, is a rare genetic disorder affecting the neuromuscular junction. This condition is characterized by muscle weakness and fatigue, primarily caused by mutations in the CHRND gene. These mutations disrupt […]
Myasthenic syndromes are a group of conditions that impair the neuromuscular junction, leading to muscle weakness and fatigue. Among these, the CHRND gene myasthenic syndrome congenital type 3A, also known as the slow channel congenital myasthenic syndrome, stands out due to its genetic basis and unique clinical manifestations. Understanding the symptoms of this condition is […]
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.
