Otospondylomegaepiphyseal Dysplasia (OSMED) is a rare genetic disorder affecting the development of bones in the body, particularly those in the ears, spine, and long bones. This condition is associated with mutations in the COL2A1 gene, which plays a crucial role in the production of type II collagen. Type II collagen is essential for the normal […]
Dysmorphology Diseases
Symptoms and Testing information for GLI3 Gene Pallister-Hall Syndrome Genetic Test
Symptoms of GLI3 Gene Pallister-Hall Syndrome Genetic Test Pallister-Hall Syndrome (PHS) is a rare genetic disorder that affects the development of many parts of the body. This condition is caused by mutations in the GLI3 gene, which plays a crucial role in tissue formation and the development of organs during embryonic growth. Recognizing the symptoms […]
Symptoms and Testing information for PAX2 Gene Papillorenal Syndrome Genetic Test
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 […]
Symptoms and Testing information for MSX2 Gene Parietal Foramina Type 1 Genetic Test
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) […]
Symptoms and Testing information for LBR Gene Pelger-Huet Anomaly Genetic Test
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 and Testing information for BMP4 Gene Orofacial Cleft Type 11 Genetic Test
Orofacial clefts are among the most common congenital anomalies, affecting numerous infants worldwide each year. These conditions can significantly impact an individual’s quality of life, affecting their ability to eat, speak, hear, and breathe properly. Advances in genetic testing have paved the way for early detection and intervention, offering hope to many families. Among these […]
Symptoms and Testing information for LAMC1 Gene Pelvic Organ Prolapse LAMC1 Related Genetic Test
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 and Testing information for MSX1 Gene Orofacial Cleft Type 5 Genetic Test
Orofacial clefts, comprising cleft lip and cleft palate anomalies, are among the most common congenital malformations, affecting approximately 1 in every 700 live births globally. These conditions not only impact the physical appearance but can also lead to significant functional challenges, including difficulties with feeding, speech, hearing, and dental development. Recent advancements in genetics have […]
Symptoms and Testing information for DIS3L2 Gene Perlman Syndrome Genetic Test
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, […]
Symptoms and Testing information for IRF6 Gene Orofacial Cleft Type 6 Genetic Test
Orofacial clefts, which include cleft lip and cleft palate, are among the most common congenital anomalies worldwide. These conditions can significantly impact an individual’s quality of life, affecting not only their appearance but also their ability to speak, eat, and hear. Fortunately, advancements in genetics have paved the way for early detection and intervention, offering […]