Skeletal
Diagnostic test based on NGS of multiple genes associated to a disease, condition, or phenotype.
Panels
Osteogenesis Imperfecta – 32 genes
Osteogenesis Imperfecta (OI) is a disorder of bone fragility caused generally by mutations in the COL1A1 and COL1A2 genes that encode type I collagen.
Osteopetrosis – 32 genes
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.
Skeletal Dysplasias – 177 genes
Skeletal Dysplasias, also known as osteochondrodysplasias, are a clinically and phenotypically heterogeneous group of more than 450 inherited disorders characterized by abnormalities mainly of cartilage and bone growth, although they can also affect muscle, tendons and ligaments, resulting in abnormal shape and size of the skeleton and disproportion of long bones, spine and head.
