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Diagnosis and Genetic Testing

Have you or a family member recently received a new diagnosis of Osteogenesis Imperfecta (OI)?

We understand this can be a difficult and stressful time, and the information you have received may be new and confusing. We are here to help you make sense of it all.

We aim to provide support for the whole family and you can contact our Support Development Officer once you have received a confirmed diagnosis.

Below you will find information in relation to Diagnosis and Genetic Testing.

Genetics and Osteogenesis Imperfecta

To find a Medical Genetics Centre near you, click here.


Mainstreaming Genetic Testing in the NHS


The Role of Genetics in OI


The Genetics of OI



Genetics and Family Planning


Please watch our film to hear experiences of some parents who have children with OI.