— Understanding the symptoms of KIF1A-related disorders is crucial for early diagnosis and intervention. The KIF1A gene is responsible for encoding a protein essential for transporting synaptic vesicles in neurons. Mutations in the KIF1A gene can lead to a spectrum of neurological disorders, collectively referred to as SPG30. These conditions are characterized by a range […]
The REEP1 gene, known scientifically as Receptor Accessory Protein 1, plays a crucial role in the proper functioning and development of the nervous system. Mutations in the REEP1 gene can lead to a condition known as Spastic Paraplegia 31 (SPG31), a form of hereditary spastic paraplegia. This disorder is characterized by progressive weakness and stiffness […]
Symptoms of IBA57 Gene Spastic Paraplegia Type 74 Autosomal Recessive Genetic Test Spastic paraplegia type 74, an autosomal recessive disorder, is caused by mutations in the IBA57 gene. This condition is characterized by a variety of symptoms that can significantly impact the quality of life of those affected. Recognizing these symptoms early can lead to […]
In the realm of genetic testing and diagnosis, the advancements in understanding and identifying specific gene mutations have opened new pathways for managing and treating various conditions. One such area of significant development is in the field of neurology, specifically concerning seizures that occur in the neonatal period. A particular gene of interest in this […]
Understanding the nuances of genetic conditions is crucial for early diagnosis and management. Among these, the L1CAM gene mutation, leading to a condition known as SPG1, is of particular interest. The L1CAM gene plays a significant role in the nervous system’s development, influencing nerve cell adhesion and axon guidance. Mutations in this gene can lead […]
In the realm of genetic testing, advancements have brought to light numerous conditions that were once shrouded in mystery. Among these, SESAME Syndrome stands out due to its rarity and the complexity of its symptoms. This condition, which is linked to mutations in the KCNJ10 gene, presents a unique set of challenges to both patients […]
The KIF5A gene plays a crucial role in the body, especially concerning the nervous system’s development and function. Mutations in this gene can lead to a condition known as Spastic Paraplegia 10 (SPG10), a form of hereditary spastic paraplegia. This disorder primarily affects the lower extremities, leading to progressive weakness and spasticity. Understanding the symptoms […]
The SLC17A5 gene is crucial for the proper functioning of the human body, particularly in the development and maintenance of healthy cells. Mutations in this gene can lead to a rare condition known as Sialuria Finnish type, which can have significant health implications for affected individuals. DNA Labs UAE offers a comprehensive genetic test for […]
SPG11, also known as spastic paraplegia 11, is a genetic condition that affects the nervous system, leading to a range of symptoms that primarily involve spasticity and weakness of the legs. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each […]
Simpson-Golabi-Behmel Syndrome (SGBS) Type 1 is a rare genetic condition that primarily affects males. It is characterized by pre- and postnatal overgrowth with a range of physical anomalies and variable cognitive impacts. This condition is caused by mutations in the GPC3 gene, which plays a crucial role in regulating cellular growth and division. Understanding the […]
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.
