Osteology Diseases

Osteopetrosis, also known as marble bone disease, is a rare genetic disorder characterized by the abnormal density of bone, leading to a variety of health issues. One specific type of this condition, Osteopetrosis Autosomal Recessive Type 6, is caused by mutations in the PLEKHM1 gene. Understanding the symptoms associated with this condition is crucial for […]

Osteopetrosis, a rare bone disorder, comes in various forms, but the autosomal recessive type 7, associated with mutations in the TNFRSF11A gene, is among the specific types that necessitate a detailed understanding due to its genetic nature and potential impact on affected individuals. DNA Labs UAE is at the forefront of genetic testing and offers […]

Symptoms of LRP5 Gene Osteoporosis Pseudoglioma Syndrome Genetic Test Osteoporosis-pseudoglioma syndrome (OPPG) is a rare genetic disorder that affects the bones and eyes. It is caused by mutations in the LRP5 gene, which plays a crucial role in bone density and eye development. Recognizing the symptoms of this condition is vital for early diagnosis and […]

Pachyonychia Congenita (PC) is a rare genetic disorder that primarily affects the skin and nails. It is caused by mutations in several genes, including the KRT16 gene, which plays a crucial role in the development and maintenance of the skin and its appendages. DNA Labs UAE offers a comprehensive genetic test for the KRT16 gene […]

Pachyonychia Congenita (PC) is a rare genetic disorder that primarily affects the skin and nails. Among the various types, Type 2, also known as Jackson-Lawler type, is distinguished by its genetic cause, mutations in the KRT17 gene. Recognizing the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a […]

Pachyonychia Congenita (PC) is a rare genetic disorder that primarily affects the skin and nails. It is characterized by a variety of symptoms that can significantly impact the quality of life of those affected. One specific subtype of this condition, known as Pachyonychia Congenita Type 3, is linked to mutations in the KRT6A gene. Understanding […]

Pachyonychia Congenita (PC) is a rare genetic disorder that affects the skin and nails. It is typically inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed for a person to be affected by the condition. There are several types of PC, categorized based on the specific gene […]

Paget’s Disease of Bone, also known as Osteitis Deformans, is a chronic disorder that can result in enlarged and misshapen bones. Due to the disease’s complexity, it can lead to a range of symptoms, some of which may severely impact an individual’s quality of life. One of the key genetic markers linked to this condition […]

Osteopathia Striata with Cranial Sclerosis (OSCS) is a rare genetic disorder that affects the bones, leading to a combination of linear striations in the long bones and sclerosis of the skull. This condition is associated with mutations in the AMER1 gene, which plays a crucial role in bone development and growth. Understanding the symptoms of […]

In the realm of medical genetics, the identification and understanding of specific genes responsible for hereditary diseases have become paramount. One such condition that has garnered attention is the juvenile form of Paget’s disease, associated with mutations in the TNFRSF11B gene. At DNA Labs UAE, we offer a comprehensive genetic testing service to diagnose this […]