Corticobasal degeneration (CBD) is a rare, progressive neurodegenerative disorder that affects the brain, leading to various neurological and physical symptoms. The condition is characterized by the deterioration of specific areas of the brain, including the cerebral cortex and the basal ganglia. Recent advancements in genetic research have identified a link between mutations in the CFL1 […]
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Symptoms and Testing information for CNTNAP2 Gene Cortical Dysplasia-Focal Epilepsy Syndrome Genetic Test
Understanding the complexities of genetic conditions is crucial for early diagnosis and effective management. One such complex condition is Cortical Dysplasia-Focal Epilepsy Syndrome, which is associated with mutations in the CNTNAP2 gene. At DNA Labs UAE, we provide a comprehensive genetic test for this syndrome, aiming to offer insights and guidance for affected individuals and […]
Symptoms and Testing information for TUBB2A Gene Cortical Dysplasia Complex with Other Brain Malformations Type 5 Genetic Test
At DNA Labs UAE, we are dedicated to providing comprehensive genetic testing services to help diagnose and understand a variety of genetic conditions. One of the specialized tests we offer focuses on the TUBB2A gene, which is associated with Cortical Dysplasia Complex with Other Brain Malformations Type 5. This condition is a rare but serious […]
Symptoms and Testing information for TUBB3 Gene Cortical Dysplasia Complex with Other Brain Malformations Type 1 Genetic Test
Certainly! Here is the article in the requested format: Understanding TUBB3 Gene Cortical Dysplasia Complex with Other Brain Malformations Type 1 Cortical dysplasia complex with other brain malformations type 1, associated with mutations in the TUBB3 gene, represents a significant concern in neurodevelopmental disorders. This condition, often abbreviated as CDCBM1, is characterized by a range […]
Symptoms and Testing information for IGBP1 Gene Corpus Callosum Agenesis of with Mental Retardation Ocular Coloboma and Micrognathia Genetic Test
Understanding the IGBP1 Gene and Its Implications The human genome is a complex blueprint of life, containing the instructions needed for the development, functioning, and reproduction of humans. Within this vast network of genetic information, certain genes play critical roles in the development of the brain and other organs. One such gene is the IGBP1 […]
Symptoms and Testing information for PRRT2 Gene Convulsions Familial Infantile with Paroxysmal Choreoathetosis Genetic Test
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 […]
Symptoms and Testing information for SCN2A Gene Convulsions Benign Familial Infantile 3 Genetic Test
The SCN2A gene is critical in the development and function of the nervous system, playing a pivotal role in the regulation of electrical signals in the brain. Mutations in this gene are linked to a range of neurological conditions, including Convulsions Benign Familial Infantile 3 (BFIC3). This condition, while rare, is significant for the families […]
Symptoms and Testing information for B3GALNT2 Gene Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan Genetic Test
Congenital muscular dystrophies (CMDs) are a group of genetic disorders characterized by muscle weakness and wasting that are present at birth or develop early in life. Among these, a subtype caused by mutations in the B3GALNT2 gene has gained attention due to its association with a specific form of muscular dystrophy and abnormalities in the […]
Symptoms and Testing information for CNTN1 Gene Compton-North Congenital Myopathy Genetic Test
Understanding the genetic underpinnings of various diseases has become a cornerstone of modern medicine, allowing for more precise diagnoses, personalized treatments, and, in some cases, preventive measures to mitigate the impact of congenital conditions. One such condition that has gained attention in the medical community is Compton-North Congenital Myopathy, which is linked to mutations in […]
Symptoms and Testing information for VPS13B Gene Cohen Syndrome Genetic Test
Cohen Syndrome is a rare genetic disorder that is characterized by developmental delay, intellectual disability, small head size (microcephaly), weak muscle tone (hypotonia), and abnormalities in the visual system. This condition is caused by mutations in the VPS13B gene, which plays a crucial role in the proper development and function of various systems in the […]