Smith-Magenis Syndrome (SMS) is a complex developmental disorder that affects many parts of the body. It is characterized by a distinctive pattern of physical, behavioral, and developmental features. This condition is caused by mutations in the RAI1 gene or by deletions of genetic material from a specific region of chromosome 17, which includes the RAI1 […]
— The ARHGEF10 gene plays a crucial role in the development and function of the peripheral nervous system. Mutations in this gene have been linked to slowed nerve conduction velocity, a condition that affects the speed at which electrical signals travel along the nerves. This autosomal dominant trait means that only one copy of the […]
Sjogren-Larsson Syndrome (SLS) is a rare genetic disorder that affects the skin, nervous system, and eyes. It is caused by mutations in the ALDH3A2 gene, which plays a crucial role in the metabolism of fatty alcohols in the body. The symptoms of Sjogren-Larsson Syndrome can vary widely among affected individuals but typically include ichthyosis (scaly […]
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 […]
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 […]
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 […]
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 effective management. One such condition that has garnered attention in the neonatal domain is seizures caused by mutations in the KCNQ2 gene, also known as Benign Neonatal Seizures Type 1. DNA Labs UAE, a leading genetic laboratory, offers a comprehensive genetic test specifically […]
Understanding the Symptoms of PRRT2 Gene Seizures Benign Familial Infantile Type 2 and the Importance of Genetic Testing Introduction to PRRT2 Gene Seizures Seizures in infants can be a terrifying experience for any parent, often leading to a desperate search for answers and solutions. Among the various types of seizures, those associated with the PRRT2 […]
Symptoms of TH Gene Segawa Syndrome Autosomal Recessive Genetic Test Segawa Syndrome, also known as Dopa-responsive dystonia (DRD), is a rare disorder that affects movement. It is characterized by a peculiar form of dystonia that typically begins in childhood. This disorder is linked to mutations in the Tyrosine Hydroxylase (TH) gene, which plays a critical […]
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.
