In the intricate landscape of genetic disorders, Osteogenesis Imperfecta (OI) stands out due to its impact on bones and connective tissues. Among its various types, Type 13, linked to mutations in the BMP1 gene, is a subject of growing interest and concern within the medical community. DNA Labs UAE is at the forefront of diagnosing […]
Osteogenesis Imperfecta (OI) is a group of genetic disorders characterized by bones that break easily, often from little or no apparent cause. Among the various types of OI, Type 14, caused by mutations in the TMEM38B gene, is less common but significant due to its distinct clinical features and inheritance patterns. Understanding the symptoms and […]
Osteogenesis Imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that primarily affect the bones, leading to their increased fragility and susceptibility to fractures. Among the various types of OI, Type 15, caused by mutations in the WNT1 gene, is a form that has been identified relatively recently. This article […]
Osteogenesis Imperfecta (OI) is a group of genetic disorders that mainly affect the bones, making them fragile and more prone to fractures. Among the various types, Osteogenesis Imperfecta Type 5 (OI Type V) is a distinct form characterized by specific clinical features, which are caused by mutations in the IFITM5 gene. Recognizing the symptoms of […]
Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare genetic disorder that affects the skin, teeth, and sweat glands. It is caused by mutations in the KRT14 gene, which plays a crucial role in the development and maintenance of skin cells and other keratinized tissues. Individuals with NFJ syndrome may experience a variety of symptoms, making it important […]
Omenn Syndrome is a rare genetic disorder that affects the immune system. It is considered a form of severe combined immunodeficiency (SCID), characterized by the body’s inability to effectively fight infections. This condition is caused by mutations in several genes, including the RAG1 and RAG2 genes. The symptoms of Omenn Syndrome can be severe and […]
Nail-Patella Syndrome (NPS) is a rare genetic disorder that affects various parts of the body, including nails, bones, kidneys, and eyes. It is primarily characterized by poorly developed fingernails, toenails, and patellae (kneecaps), among other clinical manifestations. This condition is caused by mutations in the LMX1B gene, which plays a crucial role in limb development […]
Symptoms of GPC6 Gene Omodysplasia Type 1 Omodysplasia type 1 is a rare genetic disorder that primarily affects skeletal development. It is caused by mutations in the GPC6 gene. Individuals with this condition often exhibit a range of symptoms that can significantly impact their quality of life. Recognizing these symptoms early can lead to timely […]
In the realm of medical genetics, understanding the intricate dance of genes and their manifestations in various health conditions is paramount. One such condition that has garnered attention is linked to the SLC9A3R1 gene, specifically its association with Nephrolithiasisosteoporosis Hypophosphatemic Type 2. This rare genetic disorder presents a complex interplay of symptoms that significantly impact […]
Symptoms of INPPL1 Gene Opsismodysplasia Genetic Test Opsismodysplasia is a rare genetic condition that affects bone growth and development, leading to short stature, skeletal abnormalities, and other health issues. It is caused by mutations in the INPPL1 gene. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers […]
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.
