Undetected strains, including mild forms of this bone disorder, may fall into the 13-15% error ratio or the patient may simply have the bone disorder based on other genes or quantity of collagen that the test is not capable of identifying. Truly, a clinical diagnosis of evaluating the patient, family history and x-rays is the best and most thorough way to test for this bone disorder.
Hospitals may take x-rays as a test that uses and invisible electromagnetic energy beam that produces the images of internal tissue, bones, and organs onto film for the doctors and parents to examine for bone disorders. You can request a copy of your x-rays and the hospital will generally not charge you for the copies if they are aware you are taking them to a doctor for further consultation.
The doctor that you visit that is knowledgeable with fragile bones will need copies of your x-rays from your medical history file. When reading the radiology report, there may be references on the radiology reports for the x-rays such as "mild Osteopenia" (which means lower bone density), "mild bowing", "worming bones", or "thin cortices". These symptoms are consistent with a bone disorder.
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.
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