Pitt-Hopkins Syndrome (PTHS) is a rare genetic condition characterized by developmental delays, possible breathing problems, recurrent seizures (epilepsy), and distinctive facial features. The syndrome is caused by mutations in the TCF4 gene, which plays a crucial role in the development of the nervous system. Early diagnosis and intervention are key to managing the symptoms and […]
Prune Belly Syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare, genetic disorder characterized by a set of distinctive physical features and symptoms. The syndrome is named for the wrinkled appearance of the abdominal wall, resembling a prune, which is due to the lack of abdominal muscles. Recent advancements in genetics have pinpointed mutations […]
In the realm of genetic diagnostics and precision medicine, understanding the intricacies of specific gene mutations and their associated disorders is paramount. One such critical gene is the POU1F1, which plays a significant role in the development and function of the pituitary gland. Mutations in the POU1F1 gene can lead to Pituitary Hormone Deficiency Type […]
Rapp-Hodgkin Syndrome (RHS) is a rare genetic disorder that primarily affects the development of ectodermal tissues, which include the skin, hair, teeth, and sweat glands. It is part of a group of conditions known as ectodermal dysplasias. The syndrome is caused by mutations in the TP63 gene, which plays a crucial role in the development […]
DNA Labs UAE is at the forefront of genetic diagnostics and offers a comprehensive genetic test for PROP1 Gene Pituitary Hormone Deficiency Type 2. This condition, also known as Combined Pituitary Hormone Deficiency (CPHD), is a rare genetic disorder affecting the pituitary gland’s ability to produce hormones. Early diagnosis and treatment are crucial for managing […]
“` Understanding Platyspondylic Skeletal Dysplasia Torrance Type Platyspondylic Skeletal Dysplasia Torrance Type, a rare genetic disorder, is characterized by significant abnormalities in bone development and structure. This condition falls under the spectrum of skeletal dysplasias, which are disorders associated with the growth and development of bones and cartilage. The COL2A1 gene, pivotal in the body’s […]
In the realm of genetic diagnostics, the rapid advancements in genetic testing technologies have brought about a new era of understanding and managing rare genetic disorders. Among these, the STRADA gene-related conditions, notably characterized by polyhydramnios, megalencephaly, and symptomatic epilepsy, present a complex challenge to medical professionals and affected families alike. DNA Labs UAE stands […]
Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In polymicrogyria, the brain develops too many folds, and these folds are unusually small. The TUBB2B gene plays a significant role in this condition, particularly in cases of asymmetric […]
Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In polymicrogyria, the brain develops too many folds, and these folds are unusually small. The ADGRG1 gene has been identified as one of the genetic contributors to polymicrogyria, specifically […]
Polymicrogyria (PMG) is a condition characterized by abnormal development of the brain before birth. The cerebral cortex, which is the brain’s outer layer responsible for many of its complex functions, develops too many small folds and fails to develop its normal grooves. One specific type of this condition, which involves the NR2E1 gene, leads to […]
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.
