Symptoms of PC Gene Pyruvate Carboxylase Deficiency Genetic Test Pyruvate carboxylase deficiency is a rare genetic disorder that affects the body’s ability to convert carbohydrates and sugars into energy. This condition, resulting from mutations in the PC gene, impairs the normal functioning of the enzyme pyruvate carboxylase. This enzyme plays a crucial role in the […]
Pyridoxine-dependent epilepsy (PDE) is a rare but severe form of epilepsy that emerges in infancy or early childhood. This condition is directly linked to mutations in the ALDH7A1 gene. Understanding the symptoms associated with this genetic disorder is crucial for early diagnosis and treatment, which can significantly improve the quality of life for affected individuals. […]
Understanding ZFHX4 Gene Ptosis Congenital Genetic Test The ZFHX4 gene plays a pivotal role in the development of various physiological features, including eyelid formation. Mutations in the ZFHX4 gene can lead to congenital ptosis, a condition characterized by the drooping of the upper eyelid present at birth. This condition can affect one or both eyes […]
Understanding TANC1 Gene Psychomotor Retardation Psychomotor retardation is a condition that significantly affects the physical and cognitive development of an individual. It is characterized by delayed milestones, such as walking and talking, and a general slowness in the execution of movement. The TANC1 gene has been identified as one of the genetic contributors to this […]
Progressive Myoclonus Epilepsy (PME) is a group of conditions characterized by myoclonic seizures, epileptic episodes, and, in some cases, neurological decline. Among the various types of PME, Type 8, associated with mutations in the CERS1 gene, is a notable subtype. Understanding the symptoms and genetic underpinnings of CERS1 Gene Progressive Myoclonus Epilepsy Type 8 is […]
Progressive Myoclonus Epilepsy (PME) Type 6, caused by mutations in the GOSR2 gene, is a rare and severe neurological disorder. This condition is characterized by a combination of myoclonic seizures and progressive neurological decline. Recognizing the symptoms early can lead to timely genetic testing and management of the condition. At DNA Labs UAE, we offer […]
Progressive Myoclonus Epilepsy (PME) is a group of rare genetic disorders characterized by uncontrolled myoclonic jerks, seizures, and, in many cases, a progressive loss of neurological function. Among the various types of PME, Type 3, associated with mutations in the KCTD7 gene, is a particularly severe form that often begins in early childhood. Understanding the […]
Understanding the symptoms of PRICKLE1 Gene Progressive Myoclonus Epilepsy Type 1A is crucial for early diagnosis and management of the condition. This genetic disorder, while rare, has significant impacts on the lives of those affected and their families. DNA Labs UAE offers a comprehensive genetic test for this condition, providing a crucial tool in the […]
Progressive External Ophthalmoplegia (PEO) with Mitochondrial Deletions Type 5, associated with the RRM2B gene, is a rare autosomal dominant disorder that affects mitochondrial function, leading to a range of clinical manifestations primarily involving the eyes and skeletal muscles. Understanding the symptoms and the availability of genetic testing can provide crucial insights for affected individuals and […]
Understanding POLG2 Gene Mutation and Its Implications Progressive External Ophthalmoplegia (PEO) is a disorder characterized by the gradual weakening of the muscles around the eyes, leading to difficulties in eye movement and, in some cases, affecting the muscles that control swallowing. One of the genetic causes behind this condition is a mutation in the POLG2 […]
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.
