Osteogenesis Imperfecta Report
Osteogenesis Imperfecta
Osteogenesis Imperfecta indicates a rare, congenital medical condition that affects the connective tissue of the bone. Characterized by a high phenotypic variability, OI is determined by mutations in several genes, of which COL1A1 and COL1A2 are the most involved.
More than 30 genes analyzed
It is recommended if:
This test is indicated for those who have a positive family history of the condition, which is mostly transmitted in an autosomal dominant manner, and/or for those who show signs of the pathology. Among these, bone fragility, blue sclerae, defects in dentinogenesis, scoliosis and laxity in ligaments, etc.
List of main conditions:
- Odontohypophosphatasia
- Ehlers-Danlos syndrome, spondylodysplastic type, 1
- Osteogenesis imperfecta, different types
Simple workflow
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