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Symptoms and Testing information for ST3GAL3 Gene Early infantile epileptic encephalopathy type 15 Genetic Test

Understanding the symptoms of Early Infantile Epileptic Encephalopathy Type 15 (EIEE15) is crucial for early diagnosis and management. This rare but severe condition is caused by mutations in the ST3GAL3 gene, which plays a significant role in brain development. DNA Labs UAE offers a comprehensive genetic test for identifying mutations in the ST3GAL3 gene, aiding

Symptoms and Testing information for NECAP1 Gene Early infantile epileptic encephalopathy type 21 Genetic Test

Early infantile epileptic encephalopathy (EIEE), also known as Ohtahara Syndrome, is a rare neurological disorder characterized by severe seizures and significant developmental delays. Type 21 of this condition, specifically linked to mutations in the NECAP1 gene, presents unique challenges and symptoms for affected infants. Recognizing these symptoms early on is crucial for managing the condition

Symptoms and Testing information for PRX Gene Dejerine-Sottas Disease Genetic Test

Dejerine-Sottas Disease, also known as Hereditary Motor and Sensory Neuropathy Type III, is a genetic condition that affects the peripheral nervous system. It is characterized by severe demyelination of peripheral nerves, leading to muscle weakness, sensory loss, and in some cases, deformities of the extremities. The PRX gene plays a significant role in the development

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 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 CCDC78 Gene Centronuclear Myopathy Type 4 Genetic Test

Symptoms of CCDC78 Gene Centronuclear Myopathy Type 4 Genetic Test Centronuclear myopathy (CNM) type 4, associated with mutations in the CCDC78 gene, is a rare genetic disorder that affects muscle function. This condition is characterized by muscle weakness (myopathy) that can vary in severity and distribution, often worsening over time. Recognizing the symptoms early can

Symptoms and Testing information for SPEG Gene Centronuclear Myopathy Type 5 Genetic Test

At DNA Labs UAE, we specialize in cutting-edge genetic testing, offering a comprehensive suite of services designed to provide you with the most accurate and actionable health information. One of our key offerings is the SPEG Gene Centronuclear Myopathy Type 5 Genetic Test, a critical tool for diagnosing this rare but serious condition. Centronuclear myopathies

Symptoms and Testing information for MTMR14 Gene Centronuclear Myopathy Type 1 Genetic Test

Centronuclear Myopathy Type 1, also known as myotubular myopathy, is a rare genetic disorder that primarily affects skeletal muscles. It is caused by mutations in the MTMR14 gene. This condition can lead to muscle weakness, respiratory difficulties, and various developmental delays. Understanding the symptoms and undergoing genetic testing can be crucial for early diagnosis and

Symptoms and Testing information for BIN1 Gene Centronuclear Myopathy Type 2 Genetic Test

Centronuclear myopathies (CNM) are a group of rare genetic muscle disorders characterized by muscle weakness and abnormal centralization of nuclei in muscle fibers. Among the different types of CNM, BIN1 gene centronuclear myopathy, also known as Type 2, is distinguished by mutations in the BIN1 gene. Understanding the symptoms and undergoing genetic testing for this

Symptoms and Testing information for ASPA Gene Canavan Disease Genetic Test

— Symptoms of ASPA Gene Canavan Disease Genetic Test Canavan Disease is a rare inherited disorder that affects the brain and the central nervous system’s ability to send and receive messages. It is caused by mutations in the ASPA gene, which leads to a deficiency of the enzyme aspartoacylase. This deficiency results in the accumulation