Diagnosis & Testing

Bone fractures that occur with little or no trauma are often the first indication that a child may have OI. Some milder cases are not diagnosed until the teen or adult years.

"Pediatricians, orthopedists, emergency room physicians, and others who see children with fractures need to consider OI as a possible cause, particularly in cases involving multiple fractures or a family history of fractures."*

* From Bone Health & Osteoporosis, A Surgeon General Report, page 57.  


Prenatal Testing
In some cases, an ultrasound can identify bone abnormalities at 14-18 weeks. Cells obtained through chorionic villus sampling or amniocentesis can also be analyzed for a genetic mutation. See the pregnancy fact sheets for more information.


Testing for OI
Collagen analysis from a skin sample and/or DNA sequencing from a blood sample may confirm a clinical diagnosis. Testing is available from five academic, research or commercial laboratories. Our list of testing facilities also contains important information about OI diagnosis, and information for people to consider when choosing a testing facility.


Discovery: Recessive Forms of OI.
Recent discoveries expand our understanding of OI. This article summarizes the new information and explains why this discovery is important.

Diagnosing OI is primarily a clinical process. It is often difficult or inconclusive without a physician familiar with the disorder. Medical professionals seeking consults and/or parents seeking physicians familiar with OI are welcome to contact the OI Foundation for assistance.


"Because [genetic] mutations have not been detected in every patient with a clinical diagnosis of OI, these tests can not be used to conclude that an individual does not have OI."*

* Matrix DNA Diagnostics Website (Tulane University)

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