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Osteogenesis Imperfecta Diagnosis

An osteogenesis imperfecta diagnosis is typically made based on a patient's complete medical history, a physical exam, and certain tests such as biochemical (collagen) or molecular (DNA) tests. However, it is often (though not always) possible to diagnose osteogenesis based solely on clinical features.

An Introduction to Osteogenesis Imperfecta Diagnosis

In order to diagnose osteogenesis imperfecta (OI), the doctor will ask a number of questions about a person's medical history, including current symptoms and family history of any medical problems. The doctor will also perform a physical exam (looking for any signs of osteogenesis imperfecta) and order certain tests.
It is often, though not always, possible to diagnose osteogenesis based solely on clinical features. Clinical geneticists can also perform biochemical (collagen) or molecular (DNA) tests that can help confirm a diagnosis of osteogenesis imperfecta in some situations.

Tests Used for Osteogenesis Imperfecta Diagnosis

Tests used to diagnose osteogenesis imperfecta generally require several weeks before results are known. Both the collagen biopsy test and DNA test are thought to detect almost 90 percent of all collagen type 1 mutations.
A positive collagen type 1 study confirms the osteogenesis imperfecta diagnosis, but a negative result leaves open the possibility that either a collagen type 1 mutation is present but was not detected, or the patient has a form of osteogenesis imperfecta that is not associated with collagen type 1 mutations. Therefore, a negative collagen type 1 study does not necessarily rule out osteogenesis imperfecta.

Bone Densitometry in Osteogenesis Imperfecta Diagnosis

Bone densitometry (also known as a bone density test or bone density scan) will not, by itself, provide a diagnosis of osteogenesis imperfecta. However, when combined with personal and family medical history, findings on physical examination, and results of x-rays and biochemical testing, it can provide important information to support a osteogenesis imperfecta diagnosis. For example, if a person (usually a child not known to have OI) suffers a fracture, there may be a question about whether the trauma was sufficient to have caused the fracture. While some studies have shown that OI patients often have significantly reduced bone density, other studies indicate that bone density may be normal in OI patients who are mildly affected.
(Click Bone Densitometry and Osteogenesis Imperfecta for more information on this test that may be used to help diagnose osteogenesis imperfecta.)
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