Osteopetrosis, also known as marble bone disease, is a rare genetic disorder that affects the development and function of osteoclasts, the cells responsible for bone resorption. This leads to the abnormal hardening and densification of bones. Among the various types of osteopetrosis, Autosomal Recessive Type 2 (ARO2), caused by mutations in the TNFSF11 gene, is […]
Osteology Diseases
Symptoms and Testing information for CA2 Gene Osteopetrosis Autosomal Recessive Type 3 Genetic Test
Osteopetrosis is a group of rare genetic bone disorders characterized by increased bone density and abnormal bone growth. Among its various types, the Autosomal Recessive Type 3 (ARO3), linked to mutations in the CA2 gene, stands out due to its unique clinical manifestations and inheritance patterns. DNA Labs UAE offers a comprehensive genetic test for […]
Symptoms and Testing information for CLCN7 Gene Osteopetrosis Autosomal Recessive Type 4 Genetic Test
Osteopetrosis, also known as marble bone disease, is a rare genetic disorder characterized by the increased density of bones, making them abnormally hard yet fragile. Among the various types of osteopetrosis, Autosomal Recessive Type 4, caused by mutations in the CLCN7 gene, is significant due to its specific genetic origins and implications. DNA Labs UAE […]
Symptoms and Testing information for OSTM1 Gene Osteopetrosis Autosomal Recessive Type 5 Genetic Test
Osteopetrosis, also known as “marble bone disease,” is a rare genetic disorder characterized by increased bone density and abnormal bone growth. This condition can lead to a variety of health problems, including fractures, anemia, and impaired vision. One specific form of this disease, Osteopetrosis Autosomal Recessive Type 5, is caused by mutations in the OSTM1 […]
Symptoms and Testing information for PLEKHM1 Gene Osteopetrosis Autosomal Recessive Type 6 Genetic Test
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 […]
Symptoms and Testing information for TNFRSF11A Gene Osteopetrosis Autosomal Recessive Type 7 Genetic Test
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 and Testing information for LRP5 Gene Osteoporosis Pseudoglioma Syndrome Genetic Test
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 […]
Symptoms and Testing information for KRT16 Gene Pachyonychia Congenita Type 1 Genetic Test
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 […]
Symptoms and Testing information for KRT17 Gene Pachyonychia Congenita Type 2 Genetic Test
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 […]
Symptoms and Testing information for KRT6A Gene Pachyonychia Congenita Type 3 Genetic Test
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 […]