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 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) 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 […]
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 […]
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). […]
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 […]
In the realm of genetic diagnostics and personalized medicine, understanding the intricacies of specific genetic conditions is paramount for effective treatment and management. One such condition that has garnered significant attention is Prader-Willi Syndrome (PWS), a complex genetic disorder that affects many parts of the body. At the forefront of providing advanced genetic testing services, […]
Prader-Willi Syndrome (PWS) is a complex genetic disorder that affects many parts of the body. This condition is primarily caused by the loss of function of several genes in a particular region of chromosome 15 (referred to as 15q11-q13). Understanding and identifying the symptoms of Prader-Willi Syndrome is crucial for early diagnosis and management. DNA […]
Potassium-aggravated myotonia is a rare neuromuscular disorder characterized by muscle stiffness and difficulty relaxing muscles after contraction. This condition is caused by mutations in the SCN4A gene, which plays a critical role in the proper functioning of muscle cells. Understanding the symptoms of this genetic condition is crucial for early diagnosis and management. DNA Labs […]
Porencephaly is a rare neurological disorder characterized by the presence of cavities or cysts within the cerebral hemisphere of the brain. These cavities can be the result of a variety of factors including genetic mutations, which is where the COL4A2 gene comes into play. The COL4A2 gene is crucial for the proper development and maintenance […]
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.
