Osteogenesis imperfecta

Diagnosis and Testing

How do I get tested for osteogenesis imperfecta?

A doctor may suspect a diagnosis of osteogenesis imperfecta (OI) because of the presence of certain symptoms, especially repeated fractures that occur without trauma or only mild trauma. OI may be suspected because of the presence of symptoms that are common to OI along with a family history of fractures or symptoms of OI. X-rays may be taken that show changes to the bones that can indicate OI. To confirm a diagnosis, a doctor may recommend genetic testing. These tests involve studying the specific genes that cause OI for known changes (mutations). Some forms of OI can be diagnosed through tests that study the structure and amount of type I collagen, which is altered or deficient in some forms of OI.

If you believe that you or your child has OI, you can request or seek out a referral to a genetics clinic that may be more familiar with these disorders. The Genetics and Rare Diseases Information Center provides information on how to find healthcare professionals with experience in specific conditions, specialty treatment centers, genetics clinics, and researchers who are studying a specific condition. The Osteogenesis Imperfecta Foundation can also provide referrals to physicians or medical centers with experience treating OI.

If you suspect that someone in your family has OI, you should also talk to a genetic counselor in your area.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/osteogenesis-imperfecta/diagnosis-testing/27307 • DATE UPDATED: 2017-04-11


Steiner RD, Adsit J, Basel D. COL1A1/2-Related Osteogenesis Imperfecta. GeneReviews website. Accessed April 6, 2017. https://www.ncbi.nlm.nih.gov/books/NBK1295/

Beary JF, Chines AA. Osteogenesis imperfecta: Clinical features and diagnosis. UpToDate Inc., website. www.uptodate.com/contents/osteogenesis-imperfecta-clinical-features-and-diagnosis

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