Understanding PRRT2 Gene Convulsions: Familial Infantile with Paroxysmal Choreoathetosis Convulsions and movement disorders in infants can be alarming for parents and caregivers, signaling the need for immediate medical attention and accurate diagnosis. One such condition that has gained attention in the medical community is related to the PRRT2 gene, known for causing Familial Infantile Convulsions […]
Dejerine-Sottas Disease, also known as hereditary motor and sensory neuropathy type III, is a progressive neurological disorder that affects the peripheral nerves. It is characterized by severe muscle weakness and sensory loss in the limbs. The GJB1 gene plays a crucial role in the development of this condition, and genetic testing can provide valuable insights […]
In the realm of genetic testing, the GJB1 Gene CMTX1 Genetic Test stands out as a pivotal diagnostic tool. This test specifically targets the GJB1 gene mutations responsible for Charcot-Marie-Tooth disease type X1 (CMTX1), a condition that significantly impacts the nervous system. Understanding the symptoms of CMTX1 is crucial for individuals who may be at […]
In the realm of medical genetics, the discovery and study of specific genes have revolutionized our understanding and treatment of various inherited conditions. One such gene that has garnered attention in recent years is the AIFM1 gene, which is linked to a condition known as Charcot-Marie-Tooth disease X-linked 4 (CMTX4). This condition is a rare […]
— Understanding PRPS1 Gene CMTX5 Genetic Test Charcot-Marie-Tooth disease X-linked 5 (CMTX5), also known as Rosenberg-Chutorian syndrome, is a rare genetic condition that affects the peripheral nervous system. The condition is linked to mutations in the PRPS1 gene. Understanding the symptoms and undergoing early genetic testing can play a crucial role in managing and mitigating […]
Symptoms of CC2D2A Gene COACH Syndrome Genetic Test COACH Syndrome is a rare genetic disorder that affects multiple organ systems, including the brain, liver, and kidneys. The syndrome is an acronym that stands for Cerebellar vermis hypoplasia, Oligophrenia (developmental delay), Ataxia, Coloboma, and Hepatic fibrosis. It is caused by mutations in the CC2D2A gene, which […]
COACH Syndrome is a rare genetic disorder that affects multiple organ systems within the body. It is characterized by a range of symptoms that can vary significantly in their severity and presentation among affected individuals. The syndrome is an acronym that stands for Cerebellar vermis hypoplasia, Oligophrenia (intellectual disability), Ataxia (lack of muscle control), Coloboma […]
COACH Syndrome is a rare genetic disorder that affects multiple organs and systems within the body. It is characterized by a wide range of symptoms that can vary significantly from one individual to another. The condition is caused by mutations in the TMEM67 gene, which plays a crucial role in the development and function of […]
Coenzyme Q10 (CoQ10) deficiency is a rare genetic condition that can affect multiple systems in the body, leading to a wide range of symptoms. The COQ2 gene plays a crucial role in the biosynthesis of CoQ10, a substance that is essential for the proper functioning of the mitochondria, the energy-producing units within cells. Mutations in […]
Symptoms of PDSS1 Gene Coenzyme Q10 Deficiency Type 2 Genetic Test Coenzyme Q10 (CoQ10) deficiency is a rare condition that can affect multiple systems of the body. This condition can present itself in various forms, one of which is associated with mutations in the PDSS1 gene. This specific type, known as Coenzyme Q10 Deficiency Type […]
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.
