Genetic Test
The COL1A1 (Collagen Type I Alpha 1 Chain) gene encodes a major component of type I collagen, which is found in most connective tissues, including bone, cornea, dermis, and tendons.
Type I collagen provides structural strength and integrity to these tissues.
The SERPINH1 (Serpin Family H Member 1) gene encodes a collagen-specific molecular chaperone protein that plays a critical role in the proper folding, stabilization, and assembly of collagen during synthesis.
Together, these proteins are essential for the formation and maintenance of healthy connective tissue.
This genetic test targets two known mutations in the COL1A1 and SERPINH1 genes associated with osteogenesis imperfecta (OI), a heritable disorder characterized by fragile bones and impaired skeletal integrity.
Disease Description
Osteogenesis imperfecta (OI) is a rare congenital disorder characterized by unusually fragile bones that fracture easily, often with little or no apparent cause.
It is a strongly inherited genetic condition, and the severity can vary widely—even among individuals within the same family.
Although affected animals are prone to frequent fractures, the rate of bone healing is typically normal, distinguishing the condition from other metabolic bone disorders.
