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 […]
Symptoms of NRXN1 Gene Pitt-Hopkins Syndrome Genetic Test Pitt-Hopkins Syndrome is a rare genetic condition that affects various parts of the body, including the nervous system. It is characterized by developmental delays, moderate to severe intellectual disability, and distinctive facial features. The condition is caused by mutations in the NRXN1 gene, which plays a crucial […]
Phelan-McDermid Syndrome (PMS), also known as 22q13.3 deletion syndrome, is a rare genetic condition that results from the deletion or mutation of the SHANK3 gene on chromosome 22. This condition affects various parts of the body and leads to a wide range of symptoms. Understanding these symptoms is crucial for early diagnosis and intervention, which […]
Symptoms of FGFR2 Gene Pfeiffer Syndrome Genetic Test Pfeiffer Syndrome is a rare genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis), which affects the shape of the head and face. This condition also impacts the limbs and fingers. The FGFR2 gene plays a crucial role in the development of bones and […]
Symptoms of FGFR1 Gene Pfeiffer Syndrome Genetic Test Pfeiffer Syndrome is a rare genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis), which affects the shape of the head and face. It is also known for affecting the limbs, particularly the fingers and toes. This condition is primarily caused by mutations in […]
Perlman Syndrome is a rare genetic disorder that can have serious implications for the health and development of affected individuals. It is characterized by overgrowth in infancy, renal dysplasia, and an increased risk for Wilms’ tumor and other malignancies. The DIS3L2 gene has been identified as a key factor in the development of Perlman Syndrome, […]
Pelvic Organ Prolapse (POP) is a common condition that affects many women worldwide. It occurs when the muscles and tissues supporting the pelvic organs (the uterus, bladder, and rectum) become weak or loose, causing one or more of the pelvic organs to drop or press into or out of the vagina. Among the various factors […]
Symptoms of LBR Gene Pelger-Huet Anomaly Genetic Test The Pelger-Huet anomaly is a rare, inherited condition that affects the white blood cells, specifically the neutrophils. It is caused by mutations in the LBR (lamin B receptor) gene. People with this condition have neutrophils that exhibit abnormal nuclear shapes, often described as hypolobulated, meaning the nuclei […]
Symptoms of MSX2 Gene Parietal Foramina Type 1 Parietal foramina type 1, caused by mutations in the MSX2 gene, is a rare genetic condition. This condition is characterized by the presence of one or more oval or circular defects in the parietal bones of the skull. These defects are due to incomplete bone formation (ossification) […]
DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive range of services designed to provide individuals with crucial insights into their genetic makeup. Among the various tests provided, the PAX2 Gene Papillorenal Syndrome Genetic Test stands out for its significance in diagnosing a rare condition that affects the kidneys […]
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.
