Osteopetrosis

Overview

• Osteopetrosis, also known as “marble bone disease”, is a term referred to a group of skeletal disease that are characterized by a generalized increase in bone density due to a defective bone resorption by osteoclasts, the cells in charge of this function in bone tissue. Consequently, bone modelling and remodelling are impaired. The defect in bone turnover characteristically results in skeletal fragility despite increased bone mass, and it may also cause hematopoietic insufficiency, disturbed tooth eruption, nerve entrapment syndrome and growth impairment. Three forms of osteopetrosis can be distinguished based on the pattern of inheritance: autosomal recessive, autosomal dominant and X-linked.  
•  The Igenomix Osteopetrosis Precision Panel can be used to make a directed and accurate differential diagnosis of bone fragility ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.  

Indication

The Igenomix Osteopetrosis Precision Panel is indicated for those patients with a suspected clinical diagnosis of osteogenesis imperfecta presenting with the following manifestations: 

• Nasal stuffiness 
• Neuropathies 
• Deafness 
• Short stature 
• Frontal bossing 
• Large head 
• Hydrocephalus 
• Delayed dentition 
• Osteomyelitis 
• Bone fragility and fractures 
• Anemia 
• Easy bruising and bleeding  
• Recurring infections 
• Sleep apnea 
• Blindness