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 […]
Understanding the Symptoms of PRRT2 Gene Seizures Benign Familial Infantile Type 2 and the Importance of Genetic Testing Introduction to PRRT2 Gene Seizures Seizures in infants can be a terrifying experience for any parent, often leading to a desperate search for answers and solutions. Among the various types of seizures, those associated with the PRRT2 […]
Understanding the SNRPN Gene and Its Link to Prader-Willi Syndrome Prader-Willi Syndrome (PWS) is a complex genetic disorder that affects many parts of the body. This condition is primarily known for causing a constant sense of hunger, leading to overeating and obesity. However, the syndrome encompasses a range of physical, mental, and behavioral problems. A […]
Understanding the symptoms of ALS2 gene-related Primary Lateral Sclerosis in juveniles is crucial for early diagnosis and management of the condition. The ALS2 gene plays a significant role in maintaining the health of nerve cells in the brain, and mutations in this gene can lead to several neurological disorders, including juvenile Primary Lateral Sclerosis (PLS). […]
At DNA Labs UAE, we are committed to providing our clients with comprehensive and reliable genetic testing services. One of the specialized tests we offer is for the POLG gene, which is associated with Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 1, an autosomal dominant disorder. This condition, although rare, can have significant impacts on […]
Progressive External Ophthalmoplegia (PEO) is a condition that affects the muscles controlling eye and eyelid movement, leading to weakness and paralysis. When associated with mitochondrial deletions, and specifically linked to the SLC25A4 gene, it is known as Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2, an autosomal dominant genetic disorder. Understanding the symptoms and genetic […]
Understanding Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2 Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2 (PEO-MD2) is a rare genetic condition primarily characterized by weakness of the external eye muscles and other systemic manifestations. This condition is attributed to mutations in the RNASEH1 gene and is inherited in an autosomal recessive manner. Recognizing […]
Progressive External Ophthalmoplegia (PEO) with mitochondrial deletions is a rare genetic disorder that affects the muscles controlling eye and eyelid movement, leading to weakness and paralysis of these muscles. One specific type of this condition, known as Type 3 Autosomal Dominant Progressive External Ophthalmoplegia, is associated with mutations in the TWNK gene. Understanding the symptoms […]
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 […]
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 […]
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.
